SH2base
   Database for pathogenic SH2 domain variations

 
Database        SH2base
Version         1.2
File            SH2pub.shtml
Date            22-Feb-2008
Curator         Ilkka Lappalainen 
Address         Department of Chemistry, Cambridge University, 
Address         Lensfield Road, Cambridge CB2 1EW, United Kingdom 
Phone           +44 (0) 1223 336356 
Fax             +44 (0) 1223 336362 
Email           il215@cam.ac.uk
Curator         Janita Thusberg
Address         Institute of Medical Technology, University of Tampere
Address         FI-33014 Tampere, Finland
Phone           +358-3-3551 8595
Email           janita.thusberg@uta.fi
Curator         Mauno Vihinen
Address         Protein Structure and Bioinformatics 
Address         Lund University, BMC D10, SE-22184 Lund, Sweden
Phone           +46 72 526 0022
Fax             +46 46 222 9328
Email           Mauno.Vihinen@med.lu.se
URL             http://structure.bmc.lu.se/idbase/SH2base/ 
Comments        sequence entry reference in every entry
//
ID              BTK_W281X(1); standard; MUTATION; SH2
Accession       A0001
Original code   B(II-1)
Description     Nonsense mutation in the exon 10 leading to
Description     stop codon in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7627183
RefAuthors      Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle        Characterization of germline mutations of the gene
RefTitle        encoding Bruton's tyrosine kinase in families with X-linked
RefTitle        agammaglobulinemia
RefLoc          Hum. Mutat. 5(1995)
DB CrossRef     BTKbase; A0164
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62131
Feature           /change: g -> a
Feature           /genomic_region: exon; 10
Feature           /RE: +AsuHPI, +HphI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 281
Feature           /change: W -> X
Feature           /domain: SH2
Protein struct  Premature stop
Diagnosis       Classical XLA
Sex             XY
IgA             nd
IgE             nd
IgG             <10%
IgM             nd
B cells surf Ig nd
//
ID              BTK_W281X(2a); standard; MUTATION; SH2
Accession       A0002
Original code   P4-1
Description     Nonsense mutation in the exon 10 leading to
Description     stop codon in SH2 domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            09-Nov-1998 (Rel. 7, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     BTKbase; A0207
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62131
Feature           /change: g -> a
Feature           /genomic_region: exon; 10
Feature           /RE: +AsuHPI, +HphI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 281
Feature           /change: W -> X
Feature           /domain: SH2
Protein level   Absent; ref [2]
Kinase activity Inactive; ref [2]
Protein struct  Premature stop
Diagnosis       Classical XLA
Sex             XY
Age             7
Family history  Inherited
Relative        BTKbase; A0208 brother
IgA             nd
IgM             <0.39
B cells surf Ig 0
//
ID              BTK_W281X(2b); standard; MUTATION; SH2
Accession       A0003
Original code   P4-2
Description     Nonsense mutation in the exon 10 leading to
Description     stop codon in SH2 domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
DB CrossRef     BTKbase; A0208
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62131
Feature           /change: g -> a
Feature           /genomic_region: exon; 10
Feature           /RE: +AsuHPI, +HphI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 281
Feature           /change: W -> X
Feature           /domain: SH2
Protein struct  Premature stop
Diagnosis       Classical XLA
Sex             XY
Age             3.92
Relative        BTKbase; A0207 brother
IgA             <0.10
IgM             <0.10
B cells surf Ig 0
//
ID              BTK_W281X(3); standard; MUTATION; SH2
Accession       A0004
Original code   JT
Description     Nonsense mutation in the exon 10 leading to
Description     stop codon in SH2 domain
Date            26-Oct-1998 (Rel. 6, Created)
Date            26-Oct-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (26-Oct-1998) to BTKbase.
RefLoc          Prof. Hans D. Ochs; Department of Pediatrics, Box 
RefLoc          356320, University of Washington, School of Medicine 
RefLoc          Seattle, WA 98195-6320; fax 206 543 3184;
RefLoc          e-mail allgau@u.washington.edu
DB CrossRef     BTKbase; A0537
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62131
Feature           /change: g -> a
Feature           /genomic_region: exon;10
Feature           /RE: +AsuHPI, +HphI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation, premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 281
Feature           /change: W -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_W281X(4); standard; MUTATION; SH2
Accession       A0005
Systematic name g.62131G>A, c.843G>A, r.843g>a, p.Trp281X
Original code   P2
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the SH2 domain
Date            13-Apr-2006 (Rel. 8, Created)
Date            13-Apr-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16053733
RefAuthors      Wang, X. C., Wang, Y., Kanegane, H., Toshio, M., Yu, Y. H.
RefTitle        Gene diagnosis of X-linked agammaglobulinemia
RefLoc          Zhonghua Er Ke Za Zhi 43:449-452 (2005)
DB CrossRef     BTKbase; A1065
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62131
Feature           /change: g -> a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 281
Feature           /change: W -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_#H285X286(2); standard; MUTATION; SH2
Accession       A0006
Systematic name g.62142delA, c.854delA, r.854dela, p.His285fsX1
Original code   1108 285
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1109
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62142
Feature           /change: -a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 986
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 285
Feature           /change: H -> PX
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_#M286X291(1); standard; MUTATION; SH2
Accession       A0007
Systematic name g.62144_62145delAT, c.856_857delAT, r.856_857delau,
Systematic name p.Met286fsX5
Original code   1109 265
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1110
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62144..62145
Feature           /change: -at
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 988..989
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 286
Feature           /change: M -> DSESGX
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_@M286+1(1); standard; MUTATION; SH2
Accession       A0008
Systematic name g.62145_62155delinsGGTGGTATTCCAAA,
Systematic name c.857_867delinsGGTGGTATTCCAAA,
Systematic name r.857_867delinsggugguauuccaaa,
Systematic name p.His285_Met286insArgTrpTyrSerLys
Original code   P3
Description     An indel mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            24-May-2006 (Rel. 8, Created)
Date            24-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16712653
RefAuthors      Chan, K. W., Chen, T., Jiang, L., Fok, S. F., Lee, T. L., 
RefAuthors      Lee, B. W., Yang, X., Lau, Y. L.
RefTitle        Identification of bruton tyrosine kinase mutations in 12 
RefTitle        chinese patients with X-linked agammaglobulinaemia by long 
RefTitle        PCR-direct sequencing.
RefLoc          Int J Immunogenet 33:205-209 (2006)
DB CrossRef     BTKbase; A1187
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: EMBL: U78027: 62145
Feature           /change: tgactcggag t -> ggtggtattc caaa
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe insertion
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 989
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: insertion; inframe
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 286..289
Feature           /change: MTRS -> RWYSK
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             9
Sex             XY
Ethnic origin   Mongoloid
Family history  Inherited
IgA             <0.67
IgG             1.94
IgM             <0.18
B cells         0
//
ID              BTK_R288Q(1); standard; MUTATION; SH2
Accession       A0009
Original code   1110
Description     Point in the exon 10 causing amino acid change in 
Description     domain SH2
Date            28-Apr-1998 (Rel. 6, Created)
Date            28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0490
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62151
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon;10
Feature           /RE: +BseMII, +BstDEI, +DdeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> Q
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Family history  De novo
//
ID              BTK_R288Q(2); standard; MUTATION; SH2
Accession       A0010
Original code   1111
Description     Point in the exon 10 causing amino acid change in 
Description     domain SH2
Date            28-Apr-1998 (Rel. 6, Created)
Date            05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0491
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62151
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 10
Feature           /RE: +BseMII, +BstDEI, +DdeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> Q
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Family history  De novo
//
ID              BTK_R288Q(3); standard; MUTATION; SH2
Accession       A0011
Original code   A.T.
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            16-Aug-1999 (Rel. 7, Created)
Date            16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0570
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62151
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> Q
Feature           /domain: SH2
Family history  De novo
//
ID              BTK_R288Q(4); standard; MUTATION; SH2
Accession       A0012
Original code   R.C.
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            16-Aug-1999 (Rel. 7, Created)
Date            16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0571
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62151
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> Q
Feature           /domain: SH2
Family history  De novo
//
ID              BTK_R288Q(6); standard; MUTATION; SH2
Accession       A0013
Systematic name g.62151G>A, c.863G>A, r.863g>a, p.Arg288Gln
Original code   Patient 20
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0959
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62151
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> Q
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
//
ID              BTK_R288Q(7); standard; MUTATION; SH2
Accession       A0014
Systematic name g.62151G>A, c.863G>A, r.863g>a, p.Arg288Gln
Original code   1113 171
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1112
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62151
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> Q
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_R288Q(8); standard; MUTATION; SH2
Accession       A0015
Systematic name g.62151G>A, c.863G>A, r.863g>a, p.Arg288Gln
Original code   1114 192
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1113
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62151
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> Q
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_R288W(1); standard; MUTATION; SH2
Accession       A0016
Original code   276
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8162056
RefAuthors      Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, 
RefAuthors      A.M., Morgan, G., Levinsky, R.J., Kinnon, C.
RefTitle        Mutation detection in the X-linked agammaglobulinemia
RefTitle        gene, BTK, using single strand conformation polymorphism 
RefTitle        analysis
RefLoc          Hum. Molec. Genet. 3:79-83(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 8162018
RefAuthors      de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., 
RefAuthors      Schuurman, R. K. B., Hendriks, R. W.
RefTitle        Mutation analysis of the Bruton's tyrosine kinase gene in 
RefTitle        X-linked agammaglobulinemia: identification of a mutation 
RefTitle        which affects the same codon as is altered in 
RefTitle        immunodeficient xid mice
RefLoc          Hum. Molec. Genet. 3:161-166(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E. 
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     OMIM; 300300.0025
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0014
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [3]
Diagnosis       Mild XLA
Sex             XY
Age             12
Family history  Inherited
IgA             nd
IgG             2.75
IgM             nd
B cells surf Ig 2
Comment         -!-Family history: large pedigree, 8 patients
//
ID              BTK_R288W(2); standard; MUTATION; SH2
Accession       A0017
Original code   11/37
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0114
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Sex             XY
//
ID              BTK_R288W(3a); standard; MUTATION; SH2
Accession       A0018
Original code   15; R288W(3)
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (24-05-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0179
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
Relative        BTKbase; A0459 brother
//
ID              BTK_R288W(3b); standard; MUTATION; SH2
Accession       A0019
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            23-Sep-1995 (Rel. 5, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (24-05-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0459
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
Relative        BTKbase; A0179 brother
//
ID              BTK_R288W(4); standard; MUTATION; SH2
Accession       A0020
Original code   22
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0180
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
//
ID              BTK_R288W(5a); standard; MUTATION; SH2
Accession       A0021
Original code   P13-1
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0209
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
Age             5
Relative        BTKbase; A0210 brother
IgA             0.062
IgG             1.16
IgM             0.02
B cells surf Ig 0
//
ID              BTK_R288W(5b); standard; MUTATION; SH2
Accession       A0022
Original code   P13-2
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0210
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Mild XLA
Sex             XY
Age             1.67
Relative        BTKbase; A0209 brother
IgA             <0.20
IgG             7.40
IgM             1.18
B cells surf Ig 6
//
ID              BTK_R288W(6); standard; MUTATION; SH2
Accession       A0023
Original code   P40
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            09-May-1996 (Rel. 3, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (09-May-1996) to the BTKbase.
RefLoc          Dr. Gary W. Litman; USF College of Medicine, Dept of
RefLoc          Pediatrics, All Children Hospital, 801 Sixth Street
RefLoc          South, St Petersburg, FL 33701-4899, USA
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0282
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
Age             2
IgA             0.07
IgM             0.14
Symptoms        Neutropenia on occasion
//
ID              BTK_R288W(7); standard; MUTATION; SH2
Accession       A0024
Original code   G10325
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0426
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /note: destroys HinfI site
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_R288W(8); standard; MUTATION; SH2
Accession       A0025
Original code   G11335
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0427
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /note: destroys HinfI site
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; England
Family history  Inherited
Comment         -!-Family history: sporadic case, not known if mother 
Comment         -!-Family history: carries mutation
//
ID              BTK_R288W(9); standard; MUTATION; SH2
Accession       A0026
Original code   G14842
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0428
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /note: destroys HinfI site
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Mallorca
Family history  Inherited
CD19            <1
Comment         -!-General: Low Ig 
//
ID              BTK_R288W(10); standard; MUTATION; SH2
Accession       A0027
Original code   TK
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            26-Oct-1998 (Rel. 6, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (26-Oct-1998) to BTKbase.
RefLoc          Prof. Hans D. Ochs; Department of Pediatrics, Box 
RefLoc          356320, University of Washington, School of Medicine 
RefLoc          Seattle, WA 98195-6320; fax 206 543 3184;
RefLoc          e-mail allgau@u.washington.edu
DB CrossRef     SWISSCHANGE; BTK_HUMAN_20
DB CrossRef     SWISS-PROT; Q06187:288_288
DB CrossRef     BTKbase; A0540
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62151
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon;10
Feature           /RE: +BseMII, +BstDEI, +DdeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> Q
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_R288W(11a); standard; MUTATION; SH2
Accession       A0028
Original code   JLMS
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            31-May-2000 (Rel. 7, Created)
Date            31-May-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (31-May-2000) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
RefNumber       [2]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in 
RefTitle        Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0634
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Mild XLA
Sex             XY
Age             9
Ethnic origin   Caucasian; Spain
Family history  Inherited
Relative        BTKbase; A0635 first degree cousin
Relative        BTKbase; A0636 second degree cousin
IgA             2.33
IgE             270 UI
IgG             2.2
IgM             0.25
B cells surf Ig 0
CD19            0
CD20            0
Symptoms        Pneumonies
Comment         -!-Relative: Two cousins and one brother deceased at early
Comment         -!-Relative: age by infectious disease. Two cousins 
Comment         -!-Relative: diagnosed of XLA
//
ID              BTK_R288W(11b); standard; MUTATION; SH2
Accession       A0029
Original code   JAS
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            31-May-2000 (Rel. 7, Created)
Date            31-May-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (31-May-2000) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
RefNumber       [2]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in 
RefTitle        Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0635
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Age             7
Ethnic origin   Caucasian; Spain
Family history  Inherited
Relative        BTKbase; A0634 first degree cousin
Relative        BTKbase; A0636 second degree cousin
IgA             0
IgE             6 UI
IgG             2.95
IgM             0.16
B cells surf Ig 0
CD19            0
CD20            0
Symptoms        Otitis and pneumonies. Viral meningitis
Comment         -!-Relative: Three cousins deceased at early
Comment         -!-Relative: age by infectious disease. Two cousins 
Comment         -!-Relative: diagnosed of XLA
//
ID              BTK_R288W(11c); standard; MUTATION; SH2
Accession       A0030
Original code   JSM
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            31-May-2000 (Rel. 7, Created)
Date            31-May-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (31-May-2000) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
RefNumber       [2]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in 
RefTitle        Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0636
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Age             7 months
Ethnic origin   Caucasian; Spain
Family history  Inherited
Relative        BTKbase; A0634 second degree cousin
Relative        BTKbase; A0635 second degree cousin
IgA             0
IgE             0
IgG             0.33
IgM             0.04
B cells surf Ig 0
CD19            0
CD20            0
Symptoms        Otitis, sepsis, neutropaenia
Comment         -!-Relative: Three cousins deceased at early
Comment         -!-Relative: age by infectious disease. Two cousins 
Comment         -!-Relative: diagnosed of XLA
//
ID              BTK_R288W(12a); standard; MUTATION; SH2
Accession       A0031
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   Patient No 9a
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            22-Jun-2004 (Rel. 7, Created)
Date            22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15024743
RefAuthors      Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E. 
RefAuthors      M.
RefTitle        Identification of the bruton tyrosine kinase (BTK) gene 
RefTitle        mutations in 20 australian families with X-linked 
RefTitle        agammaglobulinemia (XLA).
RefLoc          Hum Mutat 23:398-399 (2004)
DB CrossRef     BTKbase; A0926
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Australia
Family history  Inherited
Relative        BTKbase; A0927 brother
Relative        BTKbase; A0928 brother
//
ID              BTK_R288W(12b); standard; MUTATION; SH2
Accession       A0032
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   Patient No 9b
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            22-Jun-2004 (Rel. 7, Created)
Date            22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15024743
RefAuthors      Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E. 
RefAuthors      M.
RefTitle        Identification of the bruton tyrosine kinase (BTK) gene 
RefTitle        mutations in 20 australian families with X-linked 
RefTitle        agammaglobulinemia (XLA).
RefLoc          Hum Mutat 23:398-399 (2004)
DB CrossRef     BTKbase; A0927
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Australia
Family history  Inherited
Relative        BTKbase; A0926 brother
Relative        BTKbase; A0928 brother
//
ID              BTK_R288W(12c); standard; MUTATION; SH2
Accession       A0033
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   Patient No 9c
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            22-Jun-2004 (Rel. 7, Created)
Date            22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15024743
RefAuthors      Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E. 
RefAuthors      M.
RefTitle        Identification of the bruton tyrosine kinase (BTK) gene 
RefTitle        mutations in 20 australian families with X-linked 
RefTitle        agammaglobulinemia (XLA).
RefLoc          Hum Mutat 23:398-399 (2004)
DB CrossRef     BTKbase; A0928
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Australia
Family history  Inherited
Relative        BTKbase; A0926 brother
Relative        BTKbase; A0927 brother
//
ID              BTK_R288W(13); standard; MUTATION; SH2
Accession       A0034
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   Patient No 10
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            22-Jun-2004 (Rel. 7, Created)
Date            22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15024743
RefAuthors      Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E. 
RefAuthors      M.
RefTitle        Identification of the bruton tyrosine kinase (BTK) gene 
RefTitle        mutations in 20 australian families with X-linked 
RefTitle        agammaglobulinemia (XLA).
RefLoc          Hum Mutat 23:398-399 (2004)
DB CrossRef     BTKbase; A0929
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Australia
Family history  Not known
//
ID              BTK_R288W(14a); standard; MUTATION; SH2
Accession       A0035
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   Patient 17a
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0954
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        BTKbase; A0955
//
ID              BTK_R288W(14b); standard; MUTATION; SH2
Accession       A0036
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   Patient 17b
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0955
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        BTKbase; A0954
//
ID              BTK_R288W(15a); standard; MUTATION; SH2
Accession       A0037
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   Patient 18a
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0956
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        BTKbase; A0957
//
ID              BTK_R288W(15b); standard; MUTATION; SH2
Accession       A0038
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   Patient 18b
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0957
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        BTKbase; A0956
//
ID              BTK_R288W(16); standard; MUTATION; SH2
Accession       A0039
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   Patient 19
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0958
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
//
ID              BTK_R288W(17); standard; MUTATION; SH2
Accession       A0040
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   P9
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            28-Jun-2004 (Rel. 7, Created)
Date            28-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A0993
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             4
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             0.03
IgG             0.07
IgM             0.02
//
ID              BTK_R288W(18); standard; MUTATION; SH2
Accession       A0041
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   P10
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            28-Jun-2004 (Rel. 7, Created)
Date            28-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A0994
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             6
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             0.12
IgG             0.70
IgM             0.16
//
ID              BTK_R288W(19); standard; MUTATION; SH2
Accession       A0042
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code   1112 126
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1111
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62150
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature           /change: R -> W
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_#R288X294(1); standard; MUTATION; SH2
Accession       A0043
Original code   W.Y.
Description     Frameshift deletion in the exon 10 leading to
Description     stop codon in SH2 domain
Date            16-Aug-1999 (Rel. 7, Created)
Date            16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0572
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 46335..46338
Feature           /change: -cgga
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994..997
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288..289
Feature           /change: RS -> VRLSNCX
Feature           /domain: SH2
Family history  De novo
//
ID              BTK_#R288X294(2); standard; MUTATION; SH2
Accession       A0044
Systematic name g.62150_62153delCGGA, c.862_865delCGGA, r.862_865delcgga,
Systematic name p.Arg288fsX6
Original code   1117 117
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1114
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62150..62153
Feature           /change: -cgga
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 994..997
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 288..289
Feature           /change: RS -> VRLSNCX
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_Q293X(1); standard; MUTATION; SH2
Accession       A0045
Original code   14
Description     Nonsense mutation in the exon 10 leading to
Description     stop codon in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7633420
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., Bernatowska-
RefAuthors      Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., 
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
DB CrossRef     BTKbase; A0132
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62165
Feature           /change: c -> t
Feature           /genomic_region: exon; 10
Feature           /RE: +MaeIII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1009
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 293
Feature           /change: Q -> X
Feature           /domain: SH2
Protein struct  Premature stop
Diagnosis       Classical XLA
Sex             XY
Age             <1
Family history  Inherited
IgA             <0.1
IgG             0.7
IgM             <0.1
B cells surf Ig <1
//
ID              BTK_Q293X(2); standard; MUTATION; SH2
Accession       A0046
Original code   BTK 18
Description     Nonsense mutation in the exon 10 leading to
Description     stop codon in SH2 domain
Date            22-Sep-2000 (Rel. 7, Created)
Date            22-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10859027
RefAuthors      Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K.,
RefAuthors      Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras,
RefAuthors      P., Finocchi, A., Livadiotti, S., Rossi, P.
RefTitle        X-chromosome inactivation and mutation pattern in the 
RefTitle        Bruton's tyrosine kinase gene in patients with X-linked 
RefTitle        agammaglobulinemia. Italian XLA Collaborative Group
RefLoc          Mol. Med. 6:104-113(2000)
DB CrossRef     BTKbase; A0699
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62165
Feature           /change: c -> t
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1009
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 293
Feature           /change: Q -> X
Feature           /domain: SH2
Sex             XY
//
ID              BTK_L295P(1a); standard; MUTATION; SH2
Accession       A0047
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            23-Aug-1996 (Rel. 4, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8723128
RefAuthors      Schuster, V., Seidenspinner, S., Kreth, H.W. 
RefTitle        Detection of a novel mutation in the SRC homology domain
RefTitle        2 (SH2) of Bruton's tyrosine kinase and direct female 
RefTitle        carrier evaluation in a family with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Am. J. Med. Gen. 63:318-322(1996)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_21
DB CrossRef     SWISS-PROT; Q06187:295_295
DB CrossRef     BTKbase; A0325
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62172
Feature           /change: t -> c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1016
Feature           /codon: cta -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 295
Feature           /change: L -> P
Feature           /domain: SH2
Sex             XY
Age             5
Family history  Inherited
Relative        BTKbase; A0326 brother
IgA             0.07
IgG             1.70
IgM             0.27
CD19            <1
//
ID              BTK_L295P(1b); standard; MUTATION; SH2
Accession       A0048
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            23-Aug-1996 (Rel. 4, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8723128
RefAuthors      Schuster, V., Seidenspinner, S., Kreth, H.W. 
RefTitle        Detection of a novel mutation in the SRC homology domain
RefTitle        2 (SH2) of Bruton's tyrosine kinase and direct female 
RefTitle        carrier evaluation in a family with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Am. J. Med. Gen. 63:318-322(1996)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_21
DB CrossRef     SWISS-PROT; Q06187:295_295
DB CrossRef     BTKbase; A0326
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62172
Feature           /change: t -> c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1016
Feature           /codon: cta -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 295
Feature           /change: L -> P
Feature           /domain: SH2
Sex             XY
Age             0.33
Family history  Inherited
Relative        BTKbase; A0325 brother
IgA             0.08
IgG             1.75
IgM             0.20
B cells surf Ig 3
//
ID              BTK_L295P(2); standard; MUTATION; SH2
Accession       A0049
Original code   21 ref. [2]
Description     Missense mutation in exon 10 leading to 
Description     amino acid change in SH2 domain
Date            15-May-1997 (Rel. 4, Created)
Date            21-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_21
DB CrossRef     SWISS-PROT; Q06187:295_295
DB CrossRef     BTKbase; A0375
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62172
Feature           /change: t -> c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1016
Feature           /codon: cta -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 295
Feature           /change: L -> P
Feature           /domain: SH2
Protein struct  Invariant, change in the hydrophobic cluster in the domain
Protein struct  center leads to structural alteration; ref [2]
Sex             XY
//
ID              BTK_#L295X330(1); standard; MUTATION; SH2
Accession       A0050
Original code   5
Description     Frameshift deletion in the exon 10 leading to
Description     stop codon in SH2 domain
Date            30-Nov-1999 (Rel. 7, Created)
Date            04-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10737994
RefCrossRef     Human Mutation, Mutation in Brief #312 (2000) Online
RefAuthors      Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L.
RefTitle        Bruton's tyrosine kinase mutations in 8 chinese families 
RefTitle        with X-linked agammaglobulinemia
RefLoc          Hum. Mutat. 15:355 (2000)
DB CrossRef     BTKbase; A0630
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62173
Feature           /change: -a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1017
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 295
Feature           /change: L -> LSKRGKKEVS LSETPAKLAN IQCLCLLNPQ GTLKGX
Feature           /domain: SH2
//
ID              BTK_Q297X(1); standard; MUTATION; SH2
Accession       A0051
Systematic name g.62177C>T, c.1021C>T, p.Q297X
Original code   P13
Description     Point mutation in the exon 10 leading to a premature stop 
Description     codon in the SH2 domain
Date            17-Jul-2003 (Rel. 7, Created)
Date            17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0880
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62177
Feature           /change: c -> t
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1021
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 297
Feature           /change: Q -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Argentina
Family history  De novo
//
ID              BTK_#G299X321(1a); standard; MUTATION; SH2
Accession       A0052
Systematic name g.62779_62858del, c.895_974del, r.895_974del, p.Lys300fsX21
Original code   P55-1
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the SH2 domain
Date            29-Jun-2004 (Rel. 7, Created)
Date            29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1033
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62779..62858
Feature           /change: -gggaaagaag gaggtttcat tgtcagagac tccagcaaag
Feature           /change:  ctggcaaata tacagtgtct gtgtttgcta aatccacagg
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1027..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 299..325
Feature           /change: GKEGGFIVRD SSKAGKYTVS VFAKSTG -> 
Feature           /change: GPSRGDTSLC CVFHTSEPVL PGX
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             2
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  Inherited
Relative        BTKbase; A1034 uncle
IgA             0.02
IgG             0.63
IgM             0.04
//
ID              BTK_#G299X321(1b); standard; MUTATION; SH2
Accession       A0053
Systematic name g.62779_62858del, c.895_974del, r.895_974del, p.Lys300fsX21
Original code   P55-2
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the SH2 domain
Date            29-Jun-2004 (Rel. 7, Created)
Date            29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1034
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62779..62858
Feature           /change: -gggaaagaag gaggtttcat tgtcagagac tccagcaaag
Feature           /change:  ctggcaaata tacagtgtct gtgtttgcta aatccacagg
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1027..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 299..325
Feature           /change: GKEGGFIVRD SSKAGKYTVS VFAKSTG -> 
Feature           /change: GPSRGDTSLC CVFHTSEPVL PGX
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             1
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  Inherited
Relative        BTKbase; A1033 nephew
IgA             <0.05
IgG             1.70
IgM             0.42
//
ID              BTK_#E301-1(1); standard; MUTATION; SH2
Accession       A0054
Systematic name g.62785_62787delGAA, c.901_903delGAA, r.901_903delgaa,
Systematic name p.Glu301del
Original code   P56
Description     An inframe deletion in the exon 11 leading to an amino acid
Description     change in the SH2 domain
Date            29-Jun-2004 (Rel. 7, Created)
Date            29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1035
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62785..62787
Feature           /change: -gaa
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1033..1035
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 301
Feature           /change: -E
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             5
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  Inherited
IgA             0.07
IgM             0.08(25y)
//
ID              BTK_G302E(4); standard; MUTATION; SH2
Accession       A0055
Systematic name g.62789G>A, c.905G>A, r.905g>a, p.Gly302Glu
Original code   Patient 21
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0960
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62789
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1037
Feature           /codon: gga -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature           /change: G -> E
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
//
ID              BTK_G302R(2a); standard; MUTATION; SH2
Accession       A0056
Systematic name g.62788G>A, c.904G>A, r.904g>a, p.Gly302Arg
Original code   Patient No 11a
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the SH2 domain
Date            22-Jun-2004 (Rel. 7, Created)
Date            22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15024743
RefAuthors      Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E. 
RefAuthors      M.
RefTitle        Identification of the bruton tyrosine kinase (BTK) gene 
RefTitle        mutations in 20 australian families with X-linked 
RefTitle        agammaglobulinemia (XLA).
RefLoc          Hum Mutat 23:398-399 (2004)
DB CrossRef     BTKbase; A0930
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62788
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1036
Feature           /codon: gga -> aga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature           /change: G -> R
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Australia
Family history  Inherited
Relative        BTKbase; A0931 uncle
//
ID              BTK_G302R(2b); standard; MUTATION; SH2
Accession       A0057
Systematic name g.62788G>A, c.904G>A, r.904g>a, p.Gly302Arg
Original code   Patient No 11b
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the SH2 domain
Date            22-Jun-2004 (Rel. 7, Created)
Date            22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15024743
RefAuthors      Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E. 
RefAuthors      M.
RefTitle        Identification of the bruton tyrosine kinase (BTK) gene 
RefTitle        mutations in 20 australian families with X-linked 
RefTitle        agammaglobulinemia (XLA).
RefLoc          Hum Mutat 23:398-399 (2004)
DB CrossRef     BTKbase; A0931
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62788
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1036
Feature           /codon: gga -> aga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature           /change: G -> R
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Australia
Family history  Inherited
Relative        BTKbase; A0930 nephew
//
ID              BTK_#G302-1(1); standard; MUTATION; SH2
Accession       A0058
Original code   AC; 11
Description     Inframe deletion in the exon 11 in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7633429
RefAuthors      Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. 
RefAuthors      C., Roifman, C. M., Morgan, G., Levinsky, R. J.,
RefAuthors      Kinnon, C.
RefTitle        Mutation analysis in Bruton's tyrosine kinase, the X-linked
RefTitle        agammaglobulinemia, including identification of an 
RefTitle        insertional hotspot
RefLoc          Hum. Molec. Genet. 4: 755-757(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_22
DB CrossRef     SWISS-PROT; Q06187:302_302
DB CrossRef     BTKbase; A0154
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62787..62789
Feature           /change: -agg
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe_deletion
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1035..1037
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name:
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature           /change: -G
Feature           /domain: SH2
Protein struct  Disturbs beta-sheet structure; ref [2]
Diagnosis       Classical XLA
Sex             XY
//
ID              BTK_#G302-1(2); standard; MUTATION; SH2
Accession       A0059
Description     Inframe deletion in the exon 11 in SH2 domain
Date            05-Apr-1996 (Rel. 4, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (01-Jan-1997) to the BTKbase.
RefLoc          Dr. C.I.E. Smith; Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_22
DB CrossRef     SWISS-PROT; Q06187:302_302
DB CrossRef     BTKbase; A0291
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62787..62789
Feature           /change: -agg
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe_deletion
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1035..1037
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name:
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature           /change: -G
Feature           /domain: SH2
Protein struct  Disturbs beta-sheet structure; ref [2]
Sex             XY
//
ID              BTK_#G302-1(3); standard; MUTATION; SH2
Accession       A0060
Systematic name g.62790_62792delAGG, c.1038_1040delAGG, p.G302del
Original code   JGR
Description     Deletion in the exon 11 leading to an amino acid change in 
Description     the SH2 domain
Date            30-Oct-2001 (Rel. 7, Created)
Date            30-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (30-Oct-2001) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Madrid 28046, Spain; Tel 91 7277095; Fax 91 7277095;
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
DB CrossRef     BTKbase; A0803
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62790..62792
Feature           /change: -agg
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1038..1040
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302..303
Feature           /change: GG -> G
Feature           /domain: SH2
Diagnosis       Classical XLA
Symptoms        neumonia. diarrhea, meningitis, hepatitis (HVC)
Age             1
Ethnic origin   Caucasoid; Spain
Family history  De novo
IgA             0.016
IgG             0.045
IgM             0.095
CD19            0
//
ID              BTK_G302E(1); standard; MUTATION; SH2
Accession       A0061
Original code   C(III-1)
Description     Missense mutation in the exon 11 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7627183
RefAuthors      Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle        Characterization of germline mutations of the gene
RefTitle        encoding Bruton's tyrosine kinase in families with X-linked
RefTitle        agammaglobulinemia
RefLoc          Hum. Mutat. 5(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_23
DB CrossRef     SWISS-PROT; Q06187:302_302
DB CrossRef     BTKbase; A0165
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62789
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature           /RE: +MboII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1037
Feature           /codon: gga -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature           /change: G -> E
Feature           /domain: SH2
Protein struct  Disturbs beta-sheet structure; ref [2]
Diagnosis       Classical XLA
Sex             XY
IgA             nd
IgE             nd
IgG             <10%
IgM             nd
B cells surf Ig nd
//
ID              BTK_G302E(2); standard; MUTATION; SH2
Accession       A0062
Original code   P43
Description     Missense mutation in the exon 11 leading to
Description     amino acid change in SH2 domain
Date            09-May-1996 (Rel. 3, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (09-May-1996) to the BTKbase.
RefLoc          Dr. Gary W. Litman; USF College of Medicine, Dept of
RefLoc          Pediatrics, All Children Hospital, 801 Sixth Street
RefLoc          South, St Petersburg, FL 33701-4899, USA
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_23
DB CrossRef     SWISS-PROT; Q06187:302_302
DB CrossRef     BTKbase; A0283
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62789
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature           /RE: +MboII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1037
Feature           /codon: gga -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature           /change: G -> E
Feature           /domain: SH2
Protein struct  Disturbs beta-sheet structure; ref [2]
Diagnosis       Classical XLA
Sex             XY
Age             8
IgA             0.07
IgM             0.10
Symptoms        Neutropenia
//
ID              BTK_G302E(3); standard; MUTATION; SH2
Accession       A0063
Original code   P32-1
Description     Missense mutation in the exon 11 leading to
Description     amino acid change in SH2 domain
Date            19-Aug-1996 (Rel. 4, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_23
DB CrossRef     SWISS-PROT; Q06187:302_302
DB CrossRef     BTKbase; A0306
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62789
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature           /RE: +MboII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1037
Feature           /codon: gga -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature           /change: G -> E
Feature           /domain: SH2
Protein level   Reduced; ref [2]
Kinase activity Reduced; ref [2]
Sex             XY
Age             5
Ethnic origin   Mongoloid; Japan 
Family history  Inherited
IgA             <0.20
IgG             1.30
IgM             0.16
B cells surf Ig 0.3
Comment         -!-Family history: one affected brother
//
ID              BTK_G302R(1); standard; MUTATION; SH2
Accession       A0064
Original code   G14844
Description     Missense mutation in the exon 11 leading to
Description     amino acid change in SH2 domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            20-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef     BTKbase; A0429
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62788
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1036
Feature           /codon: gga -> aga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature           /change: G -> R
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Mallorca
Family history  Inherited
CD19            <1
Comment         -!-General: Low Ig
//
ID              BTK_R307G(1); standard; MUTATION; SH2
Accession       A0065
Original code   JP
Description     Missense mutation in the exon 11 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8162056
RefAuthors      Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, 
RefAuthors      A.M., Morgan, G., Levinsky, R.J., Kinnon, C.
RefTitle        Mutation detection in the X-linked agammaglobulinemia
RefTitle        gene, BTK, using single strand conformation polymorphism 
RefTitle        analysis
RefLoc          Hum. Molec. Genet. 3:79-83(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     OMIM; 300300.0026
DB CrossRef     SWISSCHANGE; BTK_HUMAN_24
DB CrossRef     SWISS-PROT; Q06187:307_307
DB CrossRef     BTKbase; A0015
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62803
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1051
Feature           /codon: aga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature           /change: R -> G
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
Family history  De novo
IgA             <0.2 
IgG             <1.0
IgM             <0.1
B cells surf Ig <1
//
ID              BTK_R307G(2); standard; MUTATION; SH2
Accession       A0066
Original code   42
Description     Missense mutation in the exon 11 leading to
Description     amino acid change in SH2 domain
Date            02-Feb-1996 (Rel. 3, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     ESID; FI 0001 M68 G1
DB CrossRef     SWISSCHANGE; BTK_HUMAN_24
DB CrossRef     SWISS-PROT; Q06187:307_307
DB CrossRef     BTKbase; A0234
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62803
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1051
Feature           /codon: aga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature           /change: R -> G
Feature           /domain: SH2
mRNA level      normal
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Sex             XY
//
ID              BTK_R307G(3); standard; MUTATION; SH2
Accession       A0067
Systematic name g.62803A>G, c.919A>G, r.919a>g, p.Arg307Gly
Original code   P11
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the SH2 domain
Date            28-Jun-2004 (Rel. 7, Created)
Date            28-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A0995
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62803
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1051
Feature           /codon: aga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature           /change: R -> G
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             15
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  De novo
//
ID              BTK_R307K(1); standard; MUTATION; SH2
Accession       A0068
Systematic name g.62804G>A, c.1052G>A, p.R307K
Original code   P14
Description     Point mutation in the exon 11 leading to an amino acid 
Description     change in the SH2 domain
Date            17-Jul-2003 (Rel. 7, Created)
Date            17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0881
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62804
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1052
Feature           /codon: aga -> aaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature           /change: R -> K
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Argentina
//
ID              BTK_R307R(1); standard; MUTATION; SH2
Accession       A0069
Systematic name g.62805A>G, c.921A>G, r.921a>g, p.Arg307Arg
Original code   P12
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the SH2 domain
Date            28-Jun-2004 (Rel. 7, Created)
Date            28-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A0996
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62805
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1053
Feature           /codon: aga -> agg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature           /change: R -> R
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             6
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             0.08
IgM             0.07(34y)
//
ID              BTK_R307T(1); standard; MUTATION; SH2
Accession       A0070
Original code   1160
Description     Point mutation in the exon 11 causing amino acid change
Description     in domain SH2
Date            28-Apr-1998 (Rel. 6, Created)
Date            28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0492
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62804
Feature           /change: g -> c
Feature           /genomic_region: exon;11
Feature           /RE: +MaeIII, +Tsp45I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1052
Feature           /codon: aga -> aca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 307
Feature           /change: R -> T
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited       
//
ID              BTK_D308E(1); standard; mutation; SH2
Accession       A0071
Original code   52-403
Description     Point mutation in the exon 11 causing an amino acid change
Description     in domain SH2
Date            01-Sep-1998 (Rel. 6, Created)
Date            01-Sep-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (26-Aug-1998) to the BTKbase.
RefLoc          Ph.D. Sau-Ping Kwan; e-mail spkwan@rush.edu
DB CrossRef     BTKbase; A0511
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62808
Feature           /change: c -> g
Feature           /genomic_region: exon;11
Feature           /RE: +PleI, +PpsI, +SchI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1056
Feature           /codon: gac -> gag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 308
Feature           /change: D -> E
Feature           /domain: SH2
//
ID              BTK_#D308X321(1); standard; MUTATION; SH2
Accession       A0072
Systematic name g.62806_62807delGA, c.922_923delGA, r.922_923delga,
Systematic name p.Asp308fsX13
Original code   Patient 22
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0961
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62806..62807
Feature           /change: -ga
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1054..1055
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 308
Feature           /change: D -> LQQSWQIYSV CVCX
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Not known
//
ID              BTK_#D308X321(2); standard; MUTATION; SH2
Accession       A0073
Systematic name g.62806_62807delGA, c.922_923delGA, r.922_923delga,
Systematic name p.Asp308fsX13
Original code   P4
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the SH2 domain
Date            24-May-2006 (Rel. 8, Created)
Date            24-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16712653
RefAuthors      Chan, K. W., Chen, T., Jiang, L., Fok, S. F., Lee, T. L., 
RefAuthors      Lee, B. W., Yang, X., Lau, Y. L.
RefTitle        Identification of bruton tyrosine kinase mutations in 12 
RefTitle        chinese patients with X-linked agammaglobulinaemia by long 
RefTitle        PCR-direct sequencing.
RefLoc          Int J Immunogenet 33:205-209 (2006)
DB CrossRef     BTKbase; A1188
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62806..62807
Feature           /change: -ga
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1054..1055
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 308
Feature           /change: D -> LQQSWQIYSV CVCX
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             9
Sex             XY
Ethnic origin   Mongoloid
Family history  Inherited
IgA             <0.7
IgG             <0.33
IgM             0.2
B cells         0
//
ID              BTK_#G313X330(1); standard; MUTATION; SH2
Accession       A0074
Original code   23/3
Description     Frameshift deletion in the exon 11 leading to
Description     stop codon in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
DB CrossRef     BTKbase; A0115
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62821
Feature           /change: -g
Feature           /genomic_region: exon; 11
Feature           /RE: +CviRI, +Fnu4HI, +Fsp4HI, +ItaI, +TseI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1069
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 313
Feature           /change: G -> ANIQCLCLLN PQGTLKGX
Feature           /domain: SH2
Protein struct  Premature stop
Sex             XY
//
ID              BTK_K314K(1); standard; MUTATION; SH2
Accession       A0075
Original code   3
Description     Point mutation in the exon 13 creating cryptic 
Description     splice site and leading to 37 bp deletion, frameshift and 
Description     stop codon in SH2 domain
Date            30-Nov-1999 (Rel. 7, Created)
Date            04-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10737994
RefCrossRef     Human Mutation, Mutation in Brief #312 (2000) Online
RefAuthors      Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L.
RefTitle        Bruton's tyrosine kinase mutations in 8 chinese families 
RefTitle        with X-linked agammaglobulinemia
RefLoc          Hum. Mutat. 15:355 (2000)
DB CrossRef     BTKbase; A0628
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62826
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature           /note: cDNA location 1074
Feature           /note: codon change aaa -> aag; 3
Feature           /note: create an aberrant donor splice site gtataca
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1070..1106
Feature           /change: - gcaaatatac agtgtctgtg tttgctaaat ccacagg
Feature           /genomic_region: exon; 11
Feature           /note: deletion of last 37 bp in exon 11
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 313..325
Feature           /change: GKYTVSVFAKSTG -> GTLKGX
Feature           /domain: SH2
//
ID              BTK_#K314X330(1); standard; MUTATION; SH2
Accession       A0076
Systematic name g.62826delA, c.942delA, r.942dela, p.Lys314fsX16
Original code   1170 283
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1116
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62826
Feature           /change: -a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1074
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 314
Feature           /change: K -> NIQCLCLLNP QGTLKGX
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_Y315X(1); standard; MUTATION; SH2
Accession       A0077
Original code   11.8
Description     Nonsense mutation in the exon 11 leading to
Description     stop codon in SH2 domain
Date            09-Jan-1996 (Rel. 3, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7554467
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
DB CrossRef     BTKbase; A0256
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62829
Feature           /change: t -> g
Feature           /genomic_region: exon; 11
Feature           /RE: +AspI, +PflFI, +PsyI, +Tth111I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1077
Feature           /codon: tat -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 315
Feature           /change: Y -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
Protein struct  Premature stop
Sex             XY
//
ID              BTK_#Y315X321(1); standard; MUTATION; SH2
Accession       A0078
Original code   CT
Description     Frameshift deletion in the exon 11 leading to
Description     stop codon in SH2 domain
Date            26-Oct-1998 (Rel. 6, Created)
Date            26-Oct-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (26-Oct-1998) to BTKbase.
RefLoc          Prof. Hans D. Ochs; Department of Pediatrics, Box 
RefLoc          356320, University of Washington, School of Medicine 
RefLoc          Seattle, WA 98195-6320; fax 206 543 3184;
RefLoc          e-mail allgau@u.washington.edu
DB CrossRef     BTKbase; A0532
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62827
Feature           /change: -ta
Feature           /genomic_region: exon;11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1075..1076
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 315
Feature           /change: Y -> YSVCVCX
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_#T316X321(1a); standard; MUTATION; SH2
Accession       A0079
Original code   P10-1
Description     Frameshift deletion in the exon 11 leading to
Description     stop codon in SH2 domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
DB CrossRef     BTKbase; A0211
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62831..62832
Feature           /change: -ca
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1079..1080
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 316
Feature           /change: T -> SVCVCX
Feature           /domain: SH2
Protein struct  Premature stop
Diagnosis       Classical XLA
Sex             XY
Age             4
Relative        BTKbase; A0212 brother
IgA             0.13
IgG             0.95
IgM             0.09
B cells surf Ig 1
//
ID              BTK_#T316X321(1b); standard; MUTATION; SH2
Accession       A0080
Original code   P10-2
Description     Frameshift deletion in the exon 11 leading to
Description     stop codon in SH2 domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
DB CrossRef     BTKbase; A0212
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62831..62832
Feature           /change: -ca
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1079..1080
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 316
Feature           /change: T -> SVCVCX
Feature           /domain: SH2
Protein struct  Premature stop
Diagnosis       Classical XLA
Sex             XY
Age             3
Relative        BTKbase; A0211 brother
IgA             <0.20
IgG             2.40
IgM             <0.2
B cells surf Ig 10
//
ID              BTK_S318F(1); standard; MUTATION; SH2
Accession       A0081
Original code   R.C.
Description     Missense mutation in the exon 10 leading to
Description     amino acid change in SH2 domain
Date            16-Aug-1999 (Rel. 7, Created)
Date            16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0574
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62837
Feature           /change: c -> t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1085
Feature           /codon: tct -> ttt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 318
Feature           /change: S -> F
Feature           /domain: SH2
Family history  De novo
//
ID              BTK_S318F(2); standard; MUTATION; SH2
Accession       A0082
Systematic name g.62837C>T, c.953C>T, r.953c>u, p.Ser318Phe
Original code   1185 154
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1117
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62837
Feature           /change: c -> t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1085
Feature           /codon: tct -> ttt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 318
Feature           /change: S -> F
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_S318P(1); standard; MUTATION; SH2
Accession       A0083
Systematic name g.62836T>C, c.1084T>C, p.S318P
Original code   P15
Description     Point mutation in the exon 11 leading to an amino acid 
Description     change in the SH2 domain
Date            17-Jul-2003 (Rel. 7, Created)
Date            17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0882
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62836
Feature           /change: t -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1084
Feature           /codon: tct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 318
Feature           /change: S -> P
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Argentina
Family history  Inherited
//
ID              BTK_V319A(1); standard; MUTATION; SH2
Accession       A0084
Original code   G13717
Description     Missense mutation in the exon 11 leading to
Description     amino acid change in SH2 domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            20-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef     BTKbase; A0430
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62840
Feature           /change: t -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1088
Feature           /codon: gtg -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 319
Feature           /change: V -> A
Feature           /domain: SH2
Diagnosis       Moderate XLA
Sex             XY
Ethnic origin   Caucasoid; England
Family history  Inherited
CD19            0
Symptoms        Infections first started with hindsight at
Symptoms        6yrs, but most from 22yrs onwards
Comment         -!-Family history: sporadic case, not known if mother
Comment         -!-Family history: carries mutation
//
ID              BTK_#V319X321(1a); standard; MUTATION; SH2
Accession       A0085
Original code   P2
Description     Frameshift deletion in the exon 11 leading to
Description     stop codon in SH2 domain
Date            27-Sep-2000 (Rel. 7, Created)
Date            27-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10887125
RefAuthors      Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., 
RefAuthors      Agematsu, K., Murakami, G., Sakazume, S., Sako, M., 
RefAuthors      Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi,
RefAuthors      K., Kishimoto, T., Miyawaki, T.
RefTitle        Genetic defect in human X-linked agammaglobulinemia 
RefTitle        impedes a maturational evolution of pro-B cells into a 
RefTitle        later stage of pre-B cells in the B-cell differentiation 
RefTitle        pathway
RefLoc          Blood 96:610-617(2000)
DB CrossRef     BTKbase; A0718
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62841..62842
Feature           /change: -gt
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1089..1090
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 319..320
Feature           /change: VF -> VCX
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             0.42
Ethnic origin   Mongoloid; Japan
Relative        BTKbase; A0719 brother
//
ID              BTK_#V319X321(1b); standard; MUTATION; SH2
Accession       A0086
Original code   P7
Description     Frameshift deletion in the exon 11 leading to
Description     stop codon in SH2 domain
Date            27-Sep-2000 (Rel. 7, Created)
Date            27-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10887125
RefAuthors      Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., 
RefAuthors      Agematsu, K., Murakami, G., Sakazume, S., Sako, M., 
RefAuthors      Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi,
RefAuthors      K., Kishimoto, T., Miyawaki, T.
RefTitle        Genetic defect in human X-linked agammaglobulinemia 
RefTitle        impedes a maturational evolution of pro-B cells into a 
RefTitle        later stage of pre-B cells in the B-cell differentiation 
RefTitle        pathway
RefLoc          Blood 96:610-617(2000)
DB CrossRef     BTKbase; A0719
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62841..62842
Feature           /change: -gt
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1089..1090
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 319..320
Feature           /change: VF -> VCX
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             3
Ethnic origin   Mongoloid; Japan
Relative        BTKbase; A0718 brother
//
ID              BTK_#G325X355(1); standard; MUTATION; SH2
Accession       A0087
Systematic name g.63038_63165del, c.975_1102del, r.975_1102del,
Systematic name p.Asp326fsX29
Original code   P58
Description     A frame shift deletion mutation in the exon 12 leading to a
Description     premature stop codon in the SH2 domain
Date            29-Jun-2004 (Rel. 7, Created)
Date            29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1036
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 63038..63165
Feature           /change: -ggaccctcaa ggggtgatac gtcattatgt tgtgtgttcc
Feature           /change:  acacctcaga gccagtatta cctggctgag aagcaccttt
Feature           /change:  tcagcaccat ccctgagctc attaactacc atcagcacaa
Feature           /change:  ctctgcag
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1107..1234
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 325..368
Feature           /change: GDPQGVIRHY VVCSTPQSQY YLAEKHLFST IPELINYHQH NSAG
Feature           /change:  -> 
Feature           /change: GTHIQAQISS VSTKQECTFH CRPGIRIMGN X
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             2
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             0.24
IgG             0.24
IgM             0.26
//
ID              BTK_#D326X330(1); standard; MUTATION; SH2 
Accession       A0088
Original code   P25
Description     Frameshift deletion in the exon 12 leading to 
Description     stop codon in SH2 domain
Date            19-Aug-1996 (Rel. 4, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
DB CrossRef     BTKbase; A0307
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 63039
Feature           /change: -g
Feature           /genomic_region: exon; 12
Feature           /RE: +Hpy178III, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1108
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 326
Feature           /change: D -> TLKGX
Feature           /domain: SH2
Kinase activity Inactive
Sex             XY
Age             0.25
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             <0.05
IgM             0.30
B cells surf Ig 0.1
//
ID              BTK_#D326X398(1); standard; MUTATION; SH2
Accession       A0089
Original code   1210
Description     13 bp deletion in the exon 12 leading to
Description     frameshift and stop codon in TK domain
Date            28-Apr-1998 (Rel. 6, Created)
Date            05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0493
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 63040..63052
Feature           /change: -accctcaagg ggt 
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1109..1121
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 326..330
Feature           /change: DPQGV -> GYVIMLCVPH LRASITWLRS TFSAPSLSSL 
Feature           /change:          TTISTTLQDS YPGSNIQCLN KTRMHLPLQA
Feature           /change:          WDTDHGKLIQ RTX
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_Q328X(1); standard; MUTATION; SH2
Accession       A0090
Original code   49
Description     Nonsense mutation in the exon 12 leading to
Description     stop codon in SH2 domain
Date            02-Feb-1996 (Rel. 4, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; IT 0232 M71 G1
DB CrossRef     BTKbase; A0235
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63045
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature           /RE: +AflII, +BfrI, +BspTI, +Bst98I, +MseI, +MspCI, 
Feature           /RE: +Tru1I, +Tru9I, +Vha464I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1114
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 328
Feature           /change: Q -> X
Feature           /domain: SH2
mRNA level      nd
Protein struct  Premature stop
Sex             XY
//
ID              BTK_Q328X(2); standard; MUTATION; SH2
Accession       A0091
Original code   WKZ-8
Description     Nonsense mutation in the exon 12 leading to
Description     stop codon in SH2 domain
Date            22-Apr-1996 (Rel. 3, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (22-Apr-1996) to the BTKbase.
RefLoc          Dr. Rik A. Brooimans; Wilhelmina Kinderziekenhuis, 
RefLoc          Postbus 18009,3501 CA Utrecht, The Netherlands; 
RefLoc          e-mail R.Brooimans@wkz.ruu.nl
RefNumber       [2]
RefCrossRef     PUBMED; 9192269
RefAuthors      Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T., 
RefAuthors      Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J., 
RefAuthors      Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle        Identification of novel Bruton's tyrosine kinase mutations 
RefTitle        in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc          J. Med. Genet. 34: 484-488(1997)
DB CrossRef     BTKbase; A0275
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63045
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature           /RE: +AflII, +BfrI, +BspTI, +Bst98I, +MseI, +MspCI, 
Feature           /RE: +Tru1I, +Tru9I, +Vha464I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1114
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 328
Feature           /change: Q -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Age             3
IgG             1.2
B cells         <1
//
ID              BTK_Q328X(3); standard; MUTATION; SH2
Accession       A0092
Systematic name g.63045C>T, c.982C>T, r.982c>u, p.Gln328X
Original code   Patient 23
Description     A point mutation in the exon 12 leading to a premature stop
Description     codon in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0962
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63045
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1114
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 328
Feature           /change: Q -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Not known
//
ID              BTK_Y334S(1); standard; MUTATION; SH2
Accession       A0093
Original code   12
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7880320
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     OMIM; 300300.0027
DB CrossRef     SWISSCHANGE; BTK_HUMAN_25
DB CrossRef     SWISS-PROT; Q06187:334_334
DB CrossRef     BTKbase; A0070
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63064
Feature           /change: a -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1133
Feature           /codon: tat -> tct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 334
Feature           /change: Y -> S
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
IgA             hd
IgE             hd
IgG             <10%
IgM             hd
B cells surf Ig nd
//
ID              BTK_Y334S(2); standard; MUTATION; SH2
Accession       A0094
Systematic name g.63064A>C, c.1001A>C, r.1001a>c, p.Tyr334Ser
Original code   1220 295
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1121
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63064
Feature           /change: a -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1133
Feature           /codon: tat -> tct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 334
Feature           /change: Y -> S
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_C337G(1); standard; MUTATION; SH2
Accession       A0095
Original code   P5
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            20-Sep-2000 (Rel. 7, Created)
Date            20-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11555397
RefAuthors      Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., 
RefAuthors      Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., 
RefAuthors      Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, 
RefAuthors      P., Ritis, K.
RefTitle        Analysis of btk mutations in patients with X-linked 
RefTitle        agammaglobulinaemia (XLA) and determination of carrier 
RefTitle        status in normal female relatives: a nationwide study of 
RefTitle        btk deficiency in greece.
RefLoc          Scand J Immunol 54:321-327 (2001)
DB CrossRef     BTKbase; A0682
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63072
Feature           /change: t -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1141
Feature           /codon: tgt -> ggt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 337
Feature           /change: C -> G
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   - ; Greece
//
ID              BTK_C337X(1); standard; MUTATION; SH2
Accession       A0096
Original code   134
Description     Nonsense mutation in the exon 12 leading to
Description     stop codon in SH2 domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7880320
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
DB CrossRef     BTKbase; A0194
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63074
Feature           /change: t -> a
Feature           /genomic_region: exon; 12
Feature           /RE: +BscFI, +Bsp143I, +DpnI, +DpnII, +Kzo9I, +MboI, 
Feature           /RE: +NdeII, +Sau3AI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1143
Feature           /codon: tgt -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 337
Feature           /change: C -> X
Feature           /domain: SH2
Protein struct  Premature stop
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
IgA             nd
IgE             nd
IgG             nd
IgM             nd
B cells surf Ig nd
//
ID              BTK_@P340X349(1); standard; MUTATION; SH2
Accession       A0097
Systematic name g.63077_63080dup, c.1014_1017dup, r.1014_1017dup,
Systematic name p.Pro340fsX9
Original code   23 ref. [2]
Description     A frame shift duplication mutation in the exon 12 leading
Description     to a premature stop codon in the SH2 domain
Date            15-May-1997 (Rel. 4, Created)
Date            01-Aug-2003 (Rel. 7, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0376
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 63081
Feature           /change: +caca
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1150
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 340
Feature           /change: P -> HTSEPVLPGX
Feature           /domain: SH2
Protein struct  Truncated protein; ref [2]
Sex             XY
//
ID              BTK_Q343X(1); standard; MUTATION; SH2
Accession       A0098
Systematic name g.63090C>T, c.1159C>T, p.Q343X
Original code   P7
Description     Nonsense mutation in the exon 12 leading to stop codon in 
Description     the SH2 domain
Date            03-Oct-2001 (Rel. 7, Created)
Date            03-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (03-Oct-2001) to BTKbase.
RefLoc          Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama 
RefLoc          Medical and Pharmaceutical University; 
RefLoc          Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp
RefNumber       [2]
RefCrossRef     Human Mutation, Mutation in Brief #446 (2001) Online
RefAuthors      Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., 
RefAuthors      Futatani, T., Tsukada, S., Miyawaki, T.
RefTitle        Bruton tyrosine kinase gene mutations in Turkish patients 
RefTitle        with presumed X-linked agammaglobulinemia
RefLoc          Hum. Mut. 18:356 (2001)
DB CrossRef     BTKbase; A0764
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63090
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1159
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 343
Feature           /change: Q -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Age             1
Ethnic origin   Turkey
Family history  De novo
IgA             nd
IgG             2.82
IgM             nd
CD19            1
Comment         -!-Symptoms:Recurrent upper and lower respiratory tract 
Comment         -!-Symptoms:infection
//
ID              BTK_L346P(1); standard; MUTATION; SH2
Accession       A0099
Systematic name g.63100T>C, c.1037T>C, r.1037u>c, p.Leu346Pro
Original code   1245 228
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1122
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63100
Feature           /change: t -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1169
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 346
Feature           /change: L -> P
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_L346R(1); standard; MUTATION; SH2
Accession       A0100
Original code   P6
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            20-Sep-2000 (Rel. 7, Created)
Date            20-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11555397
RefAuthors      Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., 
RefAuthors      Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., 
RefAuthors      Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, 
RefAuthors      P., Ritis, K.
RefTitle        Analysis of btk mutations in patients with X-linked 
RefTitle        agammaglobulinaemia (XLA) and determination of carrier 
RefTitle        status in normal female relatives: a nationwide study of 
RefTitle        btk deficiency in greece.
RefLoc          Scand J Immunol 54:321-327 (2001)
DB CrossRef     BTKbase; A0683
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63100
Feature           /change: t -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1169
Feature           /codon: ctg -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 346
Feature           /change: L -> R
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   - ; Greece
Family history  Inherited
//
ID              BTK_A347P(1); standard; MUTATION; SH2
Accession       A0101
Systematic name g.63102G>C, c.1039G>C, r.1039g>c, p.Ala347Pro
Original code   P5
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the SH2 domain
Date            24-May-2006 (Rel. 8, Created)
Date            24-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16712653
RefAuthors      Chan, K. W., Chen, T., Jiang, L., Fok, S. F., Lee, T. L., 
RefAuthors      Lee, B. W., Yang, X., Lau, Y. L.
RefTitle        Identification of bruton tyrosine kinase mutations in 12 
RefTitle        chinese patients with X-linked agammaglobulinaemia by long 
RefTitle        PCR-direct sequencing.
RefLoc          Int J Immunogenet 33:205-209 (2006)
DB CrossRef     BTKbase; A1189
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63102
Feature           /change: g -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1171
Feature           /codon: gct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 347
Feature           /change: A -> P
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             5.1
Sex             XY
Ethnic origin   Mongoloid
Family history  Inherited
IgA             0.36
IgG             4.44
IgM             0.73
B cells         1.0
//
ID              BTK_E348X(1); standard; MUTATION; SH2
Accession       A0102
Description     Point in the exon 12
Description     leading to stop codon in domain SH2
Date            28-Apr-1998 (Rel. 6, Created)
Date            28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0494
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63105
Feature           /change: g -> t
Feature           /genomic_region: exon;12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1174
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 348
Feature           /change: E -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_@K349X357(1); standard; MUTATION; SH2
Accession       A0103
Systematic name g.63107dupG, c.1044dupG, r.1044dupg, p.Lys349fsX8
Original code   P11
Description     A frame shift duplication mutation in the exon 12 leading
Description     to a premature stop codon in the SH2 domain
Date            02-Oct-2000 (Rel. 7, Created)
Date            04-Aug-2003 (Rel. 7, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10887125
RefAuthors      Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., 
RefAuthors      Agematsu, K., Murakami, G., Sakazume, S., Sako, M., 
RefAuthors      Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi,
RefAuthors      K., Kishimoto, T., Miyawaki, T.
RefTitle        Genetic defect in human X-linked agammaglobulinemia 
RefTitle        impedes a maturational evolution of pro-B cells into a 
RefTitle        later stage of pre-B cells in the B-cell differentiation 
RefTitle        pathway
RefLoc          Blood 96:610-617(2000)
DB CrossRef     BTKbase; A0726
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 63108
Feature           /change: +g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1177
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 349
Feature           /change: K -> EAPFQHHPX
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             5
Ethnic origin   Mongoloid; Japan
//
ID              BTK_L358F(1a); standard; MUTATION; SH2
Accession       A0104
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7897635
RefAuthors      Ohashi, Y., Tsuchiya, S., Konno, T.
RefTitle        A new point mutation involving a highly conserved leucine
RefTitle        in the Btk SH2 domain in a family with X linked 
RefTitle        agammaglobulinaemia
RefLoc          J. Med. Genet. 32:77-79(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_26
DB CrossRef     SWISS-PROT; Q06187:358_358
DB CrossRef     BTKbase; A0161
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63135
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1204
Feature           /codon: ctc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 358
Feature           /change: L -> F
Feature           /domain: SH2
Protein level   Reduced; ref [3]
Kinase activity Reduced; ref [2]
Protein struct  Steric clash in hydrophobic core; ref [2]
Diagnosis       Classical XLA
Sex             XY
Age             22
Relative        BTKbase; A0162 brother
//
ID              BTK_L358F(1b); standard; MUTATION; SH2
Accession       A0105
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7897635
RefAuthors      Ohashi, Y., Tsuchiya, S., Konno, T.
RefTitle        A new point mutation involving a highly conserved leucine
RefTitle        in the Btk SH2 domain in a family with X linked 
RefTitle        agammaglobulinaemia
RefLoc          J. Med. Genet. 32:77-79(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_26
DB CrossRef     SWISS-PROT; Q06187:358_358
DB CrossRef     BTKbase; A0162
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63135
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1204
Feature           /codon: ctc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 358
Feature           /change: L -> F
Feature           /domain: SH2
Protein struct  Steric clash in hydrophobic core; ref [2]
Diagnosis       Classical XLA
Sex             XY
Age             12
Relative        BTKbase; A0161 brother
//
ID              BTK_L358F(2); standard; MUTATION; SH2
Accession       A0106
Systematic name g.63135C>T, c.1072C>T, r.1072c>u, p.Leu358Phe
Original code   Patient 24
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0963
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63135
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1204
Feature           /codon: ctc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 358
Feature           /change: L -> F
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
//
ID              BTK_#N360X402(1); standard; MUTATION; SH2
Accession       A0107
Original code   P7
Description     Deletion in the exon 12 leading to
Description     frameshift and stop codon in TK domain
Date            20-Sep-2000 (Rel. 7, Created)
Date            20-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11555397
RefAuthors      Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., 
RefAuthors      Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., 
RefAuthors      Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, 
RefAuthors      P., Ritis, K.
RefTitle        Analysis of btk mutations in patients with X-linked 
RefTitle        agammaglobulinaemia (XLA) and determination of carrier 
RefTitle        status in normal female relatives: a nationwide study of 
RefTitle        btk deficiency in greece.
RefLoc          Scand J Immunol 54:321-327 (2001)
DB CrossRef     BTKbase; A0684
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 63142
Feature           /change: -a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1211
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out-of-frame extension
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 360
Feature           /change: N -> TTISTTLQDS YPGSNIQCLN KTRMHLPLQA 
Feature           /change:      WDTDHGKLIQ RTX
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   - ; Greece
Family history  Inherited
//
ID              BTK_Y361C(1a); standard; MUTATION; SH2
Accession       A0108
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8164701
RefAuthors      Saffran, D. C., Parolini, O., Fitch-Hilgenberg, M. E.,
RefAuthors      Rawlings, D. J., Afar, D.E.H., Witte, O. N., Conley, M. E.
RefTitle        A point mutation in the SH2 domain of Bruton's tyrosine 
RefTitle        kinase in atypical X-linked agammaglobulinemia
RefLoc          New Engl. Med. 330:1488-1491(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     OMIM; 300300.0003
DB CrossRef     SWISSCHANGE; BTK_HUMAN_27
DB CrossRef     SWISS-PROT; Q06187:361_361
DB CrossRef     BTKbase; A0040
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63145
Feature           /change: a -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1214
Feature           /codon: tac -> tgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature           /change: Y -> C
Feature           /domain: SH2
Protein struct  Domain-domain interaction or disturbs phosphotyrosyl
Protein struct  peptide binding; ref [2]
Sex             XY
Relative        BTKbase; A0041 brother
Relative        BTKbase; A0042 brother
IgA             <0.05
IgG             5.90
IgM             0.18
B cells surf Ig 0.3-2
//
ID              BTK_Y361C(1b); standard; MUTATION; SH2
Accession       A0109
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8164701
RefAuthors      Saffran, D. C., Parolini, O., Fitch-Hilgenberg, M. E.,
RefAuthors      Rawlings, D. J., Afar, D.E.H., Witte, O. N., Conley, M. E.
RefTitle        A point mutation in the SH2 domain of Bruton's tyrosine 
RefTitle        kinase in atypical X-linked agammaglobulinemia
RefLoc          New Engl. Med. 330:1488-1491(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     OMIM; 300300.0003
DB CrossRef     SWISSCHANGE; BTK_HUMAN_27
DB CrossRef     SWISS-PROT; Q06187:361_361
DB CrossRef     BTKbase; A0041
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63145
Feature           /change: a -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1214
Feature           /codon: tac -> tgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature           /change: Y -> C
Feature           /domain: SH2
Protein struct  Domain-domain interaction or disturbs phosphotyrosyl
Protein struct  peptide binding; ref [2]
Sex             XY
Relative        BTKbase; A0040 brother
Relative        BTKbase; A0042 brother
IgA             <0.5
IgG             1.40
IgM             <0.05
B cells surf Ig 0.3-2
//
ID              BTK_Y361C(1c); standard; MUTATION; SH2
Accession       A0110
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8164701
RefAuthors      Saffran, D. C., Parolini, O., Fitch-Hilgenberg, M. E.,
RefAuthors      Rawlings, D. J., Afar, D.E.H., Witte, O. N., Conley, M. E.
RefTitle        A point mutation in the SH2 domain of Bruton's tyrosine 
RefTitle        kinase in atypical X-linked agammaglobulinemia
RefLoc          New Engl. Med. 330:1488-1491(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     OMIM; 300300.0003
DB CrossRef     SWISSCHANGE; BTK_HUMAN_27
DB CrossRef     SWISS-PROT; Q06187:361_361
DB CrossRef     BTKbase; A0042
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63145
Feature           /change: a -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1214
Feature           /codon: tac -> tgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature           /change: Y -> C
Feature           /domain: SH2
Protein struct  Domain-domain interaction or disturbs phosphotyrosyl
Protein struct  peptide binding; ref [2]
Sex             XY
Relative        BTKbase; A0040 brother
Relative        BTKbase; A0041 brother
IgA             <0.05
IgG             4.70
IgM             <0.05
B cells surf Ig 0.3-2
//
ID              BTK_Y361D(1); standard; MUTATION; SH2
Accession       A0111
Systematic name g.63144T>G, c.1081T>G, r.1081u>g, p.Tyr361Asp
Original code   1290 224
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1123
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63144
Feature           /change: t -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1213
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature           /change: Y -> D
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_Y361X(1); standard; MUTATION; SH2
Accession       A0112
Original code   PAV
Description     Nonsense mutation in the exon 12 leading to
Description     stop codon in SH2 domain
Date            31-May-2000 (Rel. 7, Created)
Date            31-May-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (31-May-2000) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
RefNumber       [2]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in 
RefTitle        Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0640
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63146
Feature           /change: c -> a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1215
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 361
Feature           /change: Y -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Age             2
Ethnic origin   Caucasian; Spain
Family history  Inherited
IgA             0
IgE             25 IU
IgG             0.25
IgM             0.10
B cells surf Ig 0
CD19            0
CD20            1
Symptoms        Sepsis, pneumonias, diarrhea, otitis 
//
ID              BTK_Y361X(2); standard; MUTATION; SH2
Accession       A0113
Systematic name g.63146C>A, c.1083C>A, r.1083c>a, p.Tyr361X
Original code   1305 273
Description     A point mutation in the exon 12 leading to a premature stop
Description     codon in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1124
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63146
Feature           /change: c -> a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1215
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature           /change: Y -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_#Y361-1(1); standard; MUTATION; SH2
Accession       A0114
Systematic name g.63144_63146delTAC, c.1081_1083delTAC, r.1081_1083deluac,
Systematic name p.Tyr361del
Original code   P59
Description     An inframe deletion in the exon 12 leading to an amino acid
Description     change in the SH2 domain
Date            29-Jun-2004 (Rel. 7, Created)
Date            29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1037
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 63144..63146
Feature           /change: -tac
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1213..1215
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature           /change: -Y
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             5 mo
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             <0.24
IgG             0.71
IgM             0.17
//
ID              BTK_H362Q(1); standard; MUTATION; SH2
Accession       A0115
Original code   WKZ-4
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (15-May-1995) to the BTKbase.
RefLoc          Dr. Rik A. Brooimans; Wilhelmina Kinderziekenhuis, 
RefLoc          Postbus 18009,3501 CA Utrecht, The Netherlands; 
RefLoc          e-mail R.Brooimans@wkz.ruu.nl
RefNumber       [2]
RefCrossRef     PUBMED; 9192269
RefAuthors      Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T., 
RefAuthors      Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J., 
RefAuthors      Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle        Identification of novel Bruton's tyrosine kinase mutations 
RefTitle        in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc          J. Med. Genet. 34: 484-488(1997) 
RefNumber       [3]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_28
DB CrossRef     SWISS-PROT; Q06187:362_362
DB CrossRef     BTKbase; A0172
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63149
Feature           /change: t -> g
Feature           /genomic_region: exon; 12
Feature           /RE: +BbvI, +Bst71I, +Fnu4HI, +Fsp4HI, +ItaI, +TseI, 
Feature           /RE: 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1218
Feature           /codon: cat -> cag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 362
Feature           /change: H -> Q
Feature           /domain: SH2
Protein struct  Disturbs phosphotyrosyl peptide binding; ref [3]
Diagnosis       Classical XLA
Sex             XY
Age             4
B cells surf Ig <1
//
ID              BTK_H362R(1); standard; MUTATION; SH2
Accession       A0116
Original code   BM
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            02-Jun-1999 (Rel. 7, Created)
Date            02-Jun-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (15-May-1999) to the BTKbase.
RefLoc          Dr. C.I.E. Smith; Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber       [2]
RefCrossRef     PUBMED; 10754312
RefAuthors      Mattsson, P. T., Lappalainen, I., Backesjo, C. M., 
RefAuthors      Brockmann, E., Lauren, S., Vihinen, M., Smith, C. I.
RefTitle        Six X-linked agammaglobulinemia-causing missense mutations 
RefTitle        in the Src homology 2 domain of Bruton's tyrosine kinase: 
RefTitle        phosphotyrosine-binding and circular dichroism analysis
RefLoc          J. Immunol. 164:4170-4177(2000)
DB CrossRef     BTKbase; A0542
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63148
Feature           /change: a -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1217
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 362
Feature           /change: H -> R
Feature           /domain: SH2
Sex             XY
//
ID              BTK_@Q363X398(1); standard; MUTATION; SH2
Accession       A0117
Systematic name g.63151dupA, c.1088dupA, r.1088dupa, p.His364fsX34
Original code   Patient 25
Description     A frame shift duplication mutation in the exon 12 leading
Description     to a premature stop codon in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0964
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 63152
Feature           /change: +a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1221
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 363
Feature           /change: Q -> QAQLCRTHIQ AQISSVSTKQ ECTFHCRPGI RIMGNX
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
//
ID              BTK_H364D(1); standard; MUTATION; SH2
Accession       A0118
Systematic name g.63153C>G, c.1090C>G, r.1090c>g, p.His364Asp
Original code   1315 222
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1125
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63153
Feature           /change: c -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1222
Feature           /codon: cac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 364
Feature           /change: H -> D
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_H364P(1); standard; MUTATION; SH2
Accession       A0119
Original code   MK
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_29
DB CrossRef     SWISS-PROT; Q06187:364_364
DB CrossRef     BTKbase; A0197
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63154
Feature           /change: a -> c
Feature           /genomic_region: exon; 12
Feature           /RE: +CviJI, +CviJI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1223
Feature           /codon: cac -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 364
Feature           /change: H -> P
Feature           /domain: SH2
Protein struct  ;ref [2]
Sex             XY
//
ID              BTK_H364P(2a); standard; MUTATION; SH2
Accession       A0120
Systematic name g.63154A>C, c.1223A>C, p.H364P
Original code   P8-1
Description     Point mutation in the exon 12 leading to an amino acid 
Description     change in the SH2 domain
Date            09-Sep-2002 (Rel. 7, Created)
Date            09-Sep-2002 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12204007
RefCrossRef     Human Mutation, Mutation in Brief #531 (2002) Online
RefAuthors      Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, 
RefAuthors      J., Vilela, M. M., Miyawaki, T.
RefTitle        Identification of mutations of bruton's tyrosine kinase 
RefTitle        gene (BTK) in brazilian patients with X-linked 
RefTitle        agammaglobulinemia.
RefLoc          Hum. Mutat. 20:235-236 (2002)
DB CrossRef     BTKbase; A0851
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63154
Feature           /change: a -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1223
Feature           /codon: cac -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 364
Feature           /change: H -> P
Feature           /domain: SH2
Protein level   22.2%
Diagnosis       Classical XLA
Sex             XY
Age             0.33
Ethnic origin   Brazil
Relative        BTKbase; A0852 cousin
IgA             0.6
IgG             3.33
IgM             0.40
B cells         0.00
//
ID              BTK_H364P(2b); standard; MUTATION; SH2
Accession       A0121
Systematic name g.63154A>C, c.1223A>C, p.H364P
Original code   P8-2
Description     Point mutation in the exon 12 leading to an amino acid 
Description     change in the SH2 domain
Date            09-Sep-2002 (Rel. 7, Created)
Date            09-Sep-2002 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12204007
RefCrossRef     Human Mutation, Mutation in Brief #531 (2002) Online
RefAuthors      Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, 
RefAuthors      J., Vilela, M. M., Miyawaki, T.
RefTitle        Identification of mutations of bruton's tyrosine kinase 
RefTitle        gene (BTK) in brazilian patients with X-linked 
RefTitle        agammaglobulinemia.
RefLoc          Hum. Mutat. 20:235-236 (2002)
DB CrossRef     BTKbase; A0852
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63154
Feature           /change: a -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1223
Feature           /codon: cac -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 364
Feature           /change: H -> P
Feature           /domain: SH2
Protein level   7.1%
Diagnosis       Classical XLA
Sex             XY
Age             1
Ethnic origin   Brazil
Relative        BTKbase; A0851 cousin
IgA             UD
IgG             2.50
IgM             0.32
B cells         0.00
//
ID              BTK_N365Y(1); standard; MUTATION; SH2
Accession       A0122
Original code   WKZ-9
Description     Missense mutation in the exon 12 leading to
Description     amino acid change in SH2 domain
Date            22-Apr-1996 (Rel. 3, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (22-Apr-1996) to the BTKbase.
RefLoc          Dr. Rik A. Brooimans; Wilhelmina Kinderziekenhuis, 
RefLoc          Postbus 18009,3501 CA Utrecht, The Netherlands; 
RefLoc          e-mail R.Brooimans@wkz.ruu.nl
RefNumber       [2]
RefCrossRef     PUBMED; 9192269
RefAuthors      Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T., 
RefAuthors      Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J., 
RefAuthors      Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle        Identification of novel Bruton's tyrosine kinase mutations 
RefTitle        in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc          J. Med. Genet. 34: 484-488(1997)
RefNumber       [3]
RefCrossRef     PUBMED; 7528500
RefAuthors      Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle        Structural basis of SH2 domain mutations in 
RefTitle        X-linked agammaglobulinemia
RefLoc          Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_30
DB CrossRef     SWISS-PROT; Q06187:365_365
DB CrossRef     BTKbase; A0276
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63156
Feature           /change: a -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1225
Feature           /codon: aac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 365
Feature           /change: N -> Y
Feature           /domain: SH2
Protein struct  ;ref [2]
Diagnosis       Classical XLA
Sex             XY
IgA             nd
IgG             nd
IgM             nd
B cells         <1
//
ID              BTK_G368X(1); standard; MUTATION; SH2
Accession       A0123
Systematic name g.63165G>T, c.1102G>T, r.1102g>u, p.Gly368X
Original code   1325 293
Description     A point mutation in the exon 12 leading to a premature stop
Description     codon in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1126
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63165
Feature           /change: g -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1234
Feature           /codon: gga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 368
Feature           /change: G -> X
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_#G368X398(1); standard; MUTATION; SH2
Accession       A0124
Systematic name g.63892_63904delGACTCATATCCAG, c.1103_1115delGACTCATATCCAG,
Systematic name r.1103_1115delgacucauauccag, p.Leu369fsX29
Original code   P60
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the SH2 domain
Date            29-Jun-2004 (Rel. 7, Created)
Date            29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1038
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 63892..63904
Feature           /change: -gactcatatc cag
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1235..1247
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 368..372
Feature           /change: GLISR -> GSNIQCLNKT RMHLPLQAWD TDHGKLIQRT X
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             4
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             0.05
IgG             0.20
IgM             <0.03
//
ID              BTK_L369F(1); standard; MUTATION; SH2
Accession       A0125
Original code   E ref. [1]; 24 ref. [2]
Description     Missense mutation in the exon 13 leading to
Description     amino acid change in SH2 domain
Date            02-Jan-1997 (Rel. 4, Created)
Date            21-Sep-2000 (Rel. 7, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (01-Jan-1997) to the BTKbase.
RefLoc          Dr. C.I.E. Smith; Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0400
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63894
Feature           /change: c -> t
Feature           /genomic_region: exon; 13
Feature           /RE: +BsaBI, +Bse8I, +Bsh1365I, +BsiBI, +BsrBRI, +MamI, 
Feature           /RE: +TfiI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1237
Feature           /codon: ctc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature           /change: L -> F
Feature           /domain: SH2
Protein struct  Invariant, affects domain specifity; ref [2]
Sex             XY
//
ID              BTK_L369F(2); standard; MUTATION; SH2
Accession       A0126
Systematic name g.63894C>T, c.1105C>T, r.1105c>u, p.Leu369Phe
Original code   Patient 28
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the SH2 domain
Date            24-Jun-2004 (Rel. 7, Created)
Date            24-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0966
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63894
Feature           /change: c -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1237
Feature           /codon: ctc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature           /change: L -> F
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
//
ID              BTK_#L369X397(1); standard; MUTATION; SH2
Accession       A0127
Systematic name g.63895_63896delTC, c.1106_1107delTC, r.1106_1107deluc,
Systematic name p.Leu369fsX28
Original code   P61
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the SH2 domain
Date            29-Jun-2004 (Rel. 7, Created)
Date            29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1039
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 63895..63896
Feature           /change: -tc
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1238..1239
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature           /change: L -> HIQAQISSVS TKQECTFHCR PGIRIMGNX
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             1
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             0
IgG             0.04
IgM             0.36
//
ID              BTK_I370M(1); standard; MUTATION; SH2
Accession       A0128
Original code   17/5
Description     Missense mutation in the exon 13 leading to
Description     amino acid change in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_31
DB CrossRef     SWISS-PROT; Q06187:370_370
DB CrossRef     BTKbase; A0116
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63899
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature           /RE: +Hsp92II, +NlaIII, +PshAI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1242
Feature           /codon: ata -> atg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 370
Feature           /change: I -> M
Feature           /domain: SH2
Protein struct  Sterical reasons
Sex             XY
//
ID              BTK_S371P(2a); standard; MUTATION; SH2
Accession       A0129
Systematic name g.63900T>C, c.1243T>C, p.S371P
Original code   P16a
Description     Point mutation in the exon 13 leading to an amino acid 
Description     change in the SH2 domain
Date            17-Jul-2003 (Rel. 7, Created)
Date            17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0883
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63900
Feature           /change: t -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1243
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 371
Feature           /change: S -> P
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Argentina
Family history  Inherited
Relative        BTKbase; A0884 brother
//
ID              BTK_S371P(2b); standard; MUTATION; SH2
Accession       A0130
Systematic name g.63900T>C, c.1243T>C, p.S371P
Original code   P16b
Description     Point mutation in the exon 13 leading to an amino acid 
Description     change in the SH2 domain
Date            17-Jul-2003 (Rel. 7, Created)
Date            17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0884
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63900
Feature           /change: t -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1243
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 371
Feature           /change: S -> P
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Argentina
Family history  Inherited
Relative        BTKbase; A0883 brother
//
ID              BTK_R372G(1); standard; MUTATION; SH2
Accession       A0131
Original code   26 ref. [2]
Description     Missense mutation in exon 13 leading to 
Description     amino acid change in SH2 domain
Date            15-May-1997 (Rel. 4, Created)
Date            21-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0377
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63903
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature           /RE: +AsuC2I, +BanII, +BcnI, +BsiSI, +CauII, +Eco24I, 
Feature           /RE: +EcoT38I, +FriOI, +HapII, +HgiJII, +HpaII, +MspI, 
Feature           /RE: +NciI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1246
Feature           /codon: agg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 372
Feature           /change: R -> G
Feature           /domain: SH2
Protein level   Absent
Kinase activity Inactive
Protein struct  On the domain surface opposite the phosphotyrosine protein
Protein struct  binding region. Impaired domain-domain interaction; 
Protein struct  ref [2]
Sex             XY
//
ID              BTK_R372G(2); standard; MUTATION; SH2
Accession       A0132
Original code   F ref. [1]; 25 ref. [2]
Description     Missense mutation in the exon 13 leading to
Description     amino acid change in SH2 domain
Date            02-Jan-1997 (Rel. 4, Created)
Date            21-Sep-2000 (Rel. 7, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (01-Jan-1997) to the BTKbase.
RefLoc          Dr. C.I.E. Smith; Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0401
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63903
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature           /RE: +AsuC2I, +BanII, +BcnI, +BsiSI, +CauII, +Eco24I, 
Feature           /RE: +EcoT38I, +FriOI, +HapII, +HgiJII, +HpaII, +MspI, 
Feature           /RE: +NciI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1246
Feature           /codon: agg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 372
Feature           /change: R -> G
Feature           /domain: SH2
Protein struct  On the domain surface opposite the phosphotyrosine protein
Protein struct  binding region. Impaired domain-domain interaction; 
Protein struct  ref [2]
Sex             XY
//
ID              BTK_R372G(3); standard; MUTATION; SH2
Accession       A0133
Systematic name g.63903A>G, c.1114A>G, r.1114a>g, p.Arg372Gly
Original code   JDVO
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the SH2 domain
Date            16-May-2005 (Rel. 8, Created)
Date            16-May-2005 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (24-Mar-2004) to BTKbase.
RefLoc          M. C. Garcia Rodriguez, G. Fontan; Unidad de Inmunologia,
RefLoc          Hospital La Paz. Madrid, Spain; Tel 91 7277095; Fax 91
RefLoc          7277095; e-mail mcruzgarcia.hulp@salud.madrid.org
DB CrossRef     BTKbase; A1059
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63903
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1246
Feature           /codon: agg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 372
Feature           /change: R -> G
Feature           /domain: SH2
Protein level   Absent
Diagnosis       Classical XLA
Symptoms        Otitis, Diarrhea
Age             4 months
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree:3 brothers death with rapid
Relative        infections
CD19            0
//
ID              BTK_K374N(1a); standard; MUTATION; SH2
Accession       A0134
Original code   P11a
Description     Missense mutation in the exon 13 leading to amino acid 
Description     change in the SH2 domain
Date            03-Sep-2001 (Rel. 7, Created)
Date            03-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in 
RefTitle        Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0731
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63911
Feature           /change: a -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1254
Feature           /codon: aaa -> aac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 374
Feature           /change: K -> N
Feature           /domain: SH2
Diagnosis       Classical XLA
Ethnic origin   Spain
Family history  Inherited
Relative        BTKbase; A0732
//
ID              BTK_K374N(1b); standard; MUTATION; SH2
Accession       A0135
Original code   P11b
Description     Missense mutation in the exon 13 leading to amino acid 
Description     change in the SH2 domain
Date            03-Sep-2001 (Rel. 7, Created)
Date            03-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in 
RefTitle        Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0732
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63911
Feature           /change: a -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1254
Feature           /codon: aaa -> aac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 374
Feature           /change: K -> N
Feature           /domain: SH2
Diagnosis       Classical XLA
Ethnic origin   Spain
Family history  Inherited
Relative        BTKbase; A0731
//
ID              BTK_Y375X(1); standard; MUTATION; SH2
Accession       A0136
Original code   14
Description     Nonsense mutation in the exon 13 leading to
Description     stop codon in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
DB CrossRef     OMIM; 300300.0030
DB CrossRef     BTKbase; A0090
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63914
Feature           /change: t -> g
Feature           /genomic_region: exon; 13
Feature           /RE: +CviJI, +CviJI, +MwoI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1257
Feature           /codon: tat -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 375
Feature           /change: Y -> X
Feature           /domain: SH2
mRNA level      absent
Protein struct  Premature stop
Sex             XY
Family history  De novo
B cells surf Ig <1
Symptoms        Growth hormone deficiency
//
ID              BTK_Y375X(2); standard; MUTATION; SH2
Accession       A0137
Original code   26
Description     Nonsense mutation in the exon 13 leading to
Description     stop codon in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
DB CrossRef     BTKbase; A0181
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63914
Feature           /change: t -> g
Feature           /genomic_region: exon; 13
Feature           /RE: +CviJI, +CviJI, +MwoI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1257
Feature           /codon: tat -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 375
Feature           /change: Y -> X
Feature           /domain: SH2
Protein struct  Premature stop
Sex             XY
//
ID              BTK_Y375X(3); standard; MUTATION; SH2
Accession       A0138
Original code   37
Description     Nonsense mutation in the exon 13 leading to
Description     stop codon in SH2 domain
Date            02-Feb-1996 (Rel. 3, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; PT 0002 M90 G1
DB CrossRef     BTKbase; A0236
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63914
Feature           /change: t -> g
Feature           /genomic_region: exon; 13
Feature           /RE: +CviJI, +CviJI, +MwoI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1257
Feature           /codon: tat -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 375
Feature           /change: Y -> X
Feature           /domain: SH2
Protein struct  Premature stop
Sex             XY
//
ID              BTK_Intron 9(4); standard; MUTATION; SH2
Accession       A0139
Original code   1107
Description     Point mutation in the intron 9
Date            28-Apr-1998 (Rel. 6, Created)
Date            01-Sep-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0489
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 61392
Feature           /change: unknown
Feature           /note: 500 bp ins starting at +5
Feature           /genomic_region: intron; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+5
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_Intron 10(1); standard; MUTATION; SH2
Accession       A0140
Original code   P18; 
Description     Point mutation at intron 10 leading to deletion of exons 
Description     10 and 11 causing inframe deletion of 44 amino acids
Date            30-May-1995 (Rel. 1, Created)
Date            14-Sep-1997 (Rel. 5, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 8090769
RefAuthors      Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson,
RefAuthors      R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good,
RefAuthors      R. A., Litman, G. W.
RefTitle        Genomic organization and structure of Bruton 
RefTitle        agammaglobulinemia tyrosine kinase: Localization of 
RefTitle        mutations associated with varied clinical presentations and
RefTitle        cource in X chromosome-linked agammaglobulinemia
RefLoc          Proc. Natl. Acad. Sci. 91:9062-9066(1994)
DB CrossRef     BTKbase; A0038
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62183
Feature           /change: g -> a
Feature           /genomic_region: intron; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; inframe
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 972..1106
Feature           /change: -gtggtattcc aaacacatga ctcggagtca ggctgagcaa 
Feature           /change:  ctgctaaagc aagaggggaa agaaggaggt ttcattgtca 
Feature           /change:  gagactccag caaagctggc aaatatacag tgtctgtgtt 
Feature           /change:  tgctaaatcc acagg
Feature           /note: deletion of exons 10 and 11
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 281..324
Feature           /change: -WYSKHMTRSQ AEQLLKQEGK EGGFIVRDSS
Feature           /change:  KAGKYTVSVF AKST
Feature           /domain: SH2
Protein struct  Aberrant splicing
Diagnosis       Classical XLA
Sex             XY
Age             0.5
Family history  Inherited
IgA             0.13
IgG             nd
IgM             0.14
CD20            <1
Symptoms        Otitis media, sinusitis
//
ID              BTK_Intron 10(2); standard; MUTATION; SH2
Accession       A0141
Original code   E(III-2)
Description     Deletion at intron 10 leading to aberrant splicing
Date            30-May-1995 (Rel. 1, Created)
Date            28-Aug-1997 (Rel. 5, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 7627183
RefAuthors      Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle        Characterization of germline mutations of the gene
RefTitle        encoding Bruton's tyrosine kinase in families with X-linked
RefTitle        agammaglobulinemia
RefLoc          Hum. Mutat. 5(1995)
DB CrossRef     BTKbase; A0168
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62777 
Feature           /change: -a
Feature           /genomic_region: intron; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:-2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Protein struct  Aberrant splicing
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
IgA             nd
IgE             nd
IgG             <10%
IgM             nd
B cells surf Ig nd
//
ID              BTK_Intron 10(4); standard; MUTATION; SH2
Accession       A0142
Original code   11.2; 1120
Description     One base pair deletion and 11 bp insertion at intron 10
Description     causing deletion of a part of the protein
Date            09-Jan-1996 (Rel. 3, Created)
Date            05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7554467
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y., 
RefAuthors      Rohrer, J.
RefTitle        Mutations in btk in patients with presumed X-linked 
RefTitle        agammaglobulinemia
RefLoc          Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0262
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: complex
Feature           /loc: EMBL: U78027: 62769
Feature           /change: g -> aggggaaaact
Feature           /genomic_region: intron; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 4
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Sex             XY
Family history  Inherited
//
ID              BTK_Intron 10(5); standard; MUTATION; SH2
Accession       A0143
Original code   11.3; 1131
Description     A point mutation at intron 10 leading to splice defect
Date            09-Jan-1996 (Rel. 3, Created)
Date            11-Nov-1998 (Rel. 7, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 7554467
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y., 
RefAuthors      Rohrer, J.
RefTitle        Mutations in btk in patients with presumed X-linked 
RefTitle        agammaglobulinemia
RefLoc          Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0263
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62777
Feature           /change: a -> c
Feature           /genomic_region: intron; 10
Feature           /RE: +AsuC2I, +BcnI, +BsaJI, +BseDI, +BsiSI, +BssECI, 
Feature           /RE: +BssKI, +CauII, +HapII, +HpaII, +MspI, +MspR9I, 
Feature           /RE: +NciI, +ScrFI, +SecI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Protein struct  Splice defect
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_Intron 10(6); standard; MUTATION; SH2
Accession       A0144
Original code   11.31; 1130
Description     Deletion at intron 10 leading to splice defect
Date            09-Jan-1996 (Rel. 3, Created)
Date            11-Nov-1998 (Rel. 7, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 7554467
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y., 
RefAuthors      Rohrer, J.
RefTitle        Mutations in btk in patients with presumed X-linked 
RefTitle        agammaglobulinemia
RefLoc          Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0264
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62777
Feature           /change: -a
Feature           /genomic_region: intron; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Protein struct  Splice defect
Sex             XY
Family history  Inherited
//
ID              BTK_Intron 10(7); standard; MUTATION; SH2
Accession       A0145
Original code   11.33; 1133
Description     Point mutation at intron 10 leading to splice defect
Date            09-Jan-1996 (Rel. 3, Created)
Date            10-Nov-1998 (Rel. 7, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 7554467
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y., 
RefAuthors      Rohrer, J.
RefTitle        Mutations in btk in patients with presumed X-linked 
RefTitle        agammaglobulinemia
RefLoc          Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0265
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62778
Feature           /change: g -> a
Feature           /genomic_region: intron; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Protein struct  Splice defect
Sex             XY
Family history  Inherited
//
ID              BTK_Intron 10(8); standard; MUTATION; SH2
Accession       A0146
Original code   G8867
Description     Point mutation at intron 10
Date            07-Sep-1997 (Rel. 5, Created)
Date            20-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef     BTKbase; A0443
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62183
Feature           /change: g -> c
Feature           /genomic_region: intron; 10
Feature           /RE: +AluI, +BstDEI, +BstDEI, +CviJI, +CviJI, +DdeI, 
Feature           /RE: +DdeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1 
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Sex             XY
Ethnic origin   Caucasoid; Cyprus
Family history  Inherited
//
ID              BTK_Intron 10(9); standard; MUTATION; SH2
Accession       A0147
Original code   G.O.
Description     Point mutation at intron 10 leading to aberrant splicing
Date            16-Aug-1999 (Rel. 7, Created)
Date            16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0573
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62778
Feature           /change: g -> a
Feature           /genomic_region: intron; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Family history  De novo
//
ID              BTK_Intron 10(10); standard; MUTATION; SH2
Accession       A0148
Original code   P9
Description     Mutation at intron 10
Date            03-Sep-2001 (Rel. 7, Created)
Date            03-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in
RefTitle        Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0730
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62183
Feature           /change: g -> t
Feature           /genomic_region: intron; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1 
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
Ethnic origin   Spain
Family history  Inherited
//
ID              BTK_Intron 10(11); standard; MUTATION; SH2
Accession       A0149
Systematic name g.IVS10-1G>A, c.895-1G>A, r.895-1g>a,
Original code   1134 170
Description     A point mutation in the intron 10 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1115
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62778
Feature           /change: g -> a
Feature           /genomic_region: intron; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_Intron 11(1); standard; MUTATION; SH2
Accession       A0150
Original code   12
Description     Deletion at intron 11 leading to aberrant splicing
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
DB CrossRef     OMIM; 300300.0028
DB CrossRef     BTKbase; A0101
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 62859
Feature           /change: -g
Feature           /genomic_region: intron; 11
Feature           /RE: -AocI, -AspS9I, -AsuI, -AxyI, -Bse21I, -BshI, 
Feature           /RE: -BsiZI, -BstDEI, -Bsu36I, -BsuRI, -Cfr13I, -CviJI, 
Feature           /RE: -CvnI, -DdeI, -DraII, -Eco81I, -EcoO109I, -HaeIII, 
Feature           /RE: -PalI, -SauI, -Sau96I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; unknown
Feature           /inexloc:+1 
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Protein struct  Aberrant splicing
Sex             XY
Family history  De novo
B cells surf Ig <1
//
ID              BTK_Intron 11(2); standard; MUTATION; SH2
Accession       A0151
Original code   43; Intron 10(3)
Description     Point mutation at intron 11 leading to aberrant splicing
Date            30-May-1995 (Rel. 1, Created)
Date            14-Sep-1997 (Rel. 5, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 7633420
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
DB CrossRef     BTKbase; A0145
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62862
Feature           /change: a -> t
Feature           /genomic_region: intron; 11
Feature           /RE: +CjeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 895..974
Feature           /change: - gggaaagaag gaggtttcat tgtcagagac tccagcaaag 
Feature           /change:   ctggcaaata tacagtgtct gtgtttgcta aatccacagg
Feature           /note: deletion of exon 11
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 300
Feature           /change: K -> PSRGDTSLCC VFHTSEPVLP GX
Feature           /domain: SH2
Protein struct  Aberrant splicing
Diagnosis       Moderate XLA
Sex             XY
Age             4
Family history  Inherited
IgG             1
B cells surf Ig <1
//
ID              BTK_Intron 11(3); standard; MUTATION; SH2
Accession       A0152
Original code   D.S.
Description     Point mutation at intron 11 leading to aberrant splicing
Date            16-Aug-1999 (Rel. 7, Created)
Date            16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0575
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62868
Feature           /change: g -> a
Feature           /genomic_region: intron; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +5
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Family history  De novo
//
ID              BTK_Intron 11(4); standard; MUTATION; SH2
Accession       A0153
Systematic name g.IVS11+3G>T
Description     Point mutation in the intron 11 leading to skipping
Description     of exon 11
Date            20-Sep-2001 (Rel. 7, Created)
Date            20-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11192530
RefAuthors      Shinomiya, N., Kanegane, H., Watanabe, A., Yamaguchi, Y., 
RefAuthors      Futatani, T., Miyawaki, T.
RefTitle        Point mutation in intron 11 of Bruton's tyrosine kinase in 
RefTitle        atypical X-linked agammaglobulinemia.
RefLoc          Pediatr. Int. 42:689-692 (2000)
DB CrossRef     BTKbase; A0775
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62861
Feature           /change: g -> t
Feature           /genomic_region: intron; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /inexloc: +3
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 895..974
Feature           /change: - gggaaagaag gaggtttcat tgtcagagac tccagcaaag 
Feature           /change:   ctggcaaata tacagtgtct gtgtttgcta aatccacagg
Feature           /note: skipping of exon 11
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 300
Feature           /change: K -> PSRGDTSLCC VFHTSEPVLP GX
Feature           /domain: SH2
Protein level   Much reduced
Diagnosis       Mild XLA
Sex             XY
Age             2.67
Ethnic origin   Japan
Family history  Inherited
IgA             0.08
IgG             1.43
IgM             0.42
//
ID              BTK_Intron 11(5); standard; MUTATION; SH2
Accession       A0154
Systematic name g.IVS11+1G>A
Original code   P1
Description     Point mutation in the intron 11 leading to an amino acid 
Description     change in the SH2 domain
Date            18-Jul-2003 (Rel. 7, Created)
Date            18-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12768435
RefAuthors      Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. 
RefAuthors      H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, 
RefAuthors      S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T.
RefTitle        Identification of mutations in the bruton's tyrosine 
RefTitle        kinase gene, including a novel genomic rearrangements 
RefTitle        resulting in large deletion, in korean X-linked 
RefTitle        agammaglobulinemia patients.
RefLoc          J Hum Genet 48:322-326 (2003)
DB CrossRef     BTKbase; A0910
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62859
Feature           /change: g -> a
Feature           /genomic_region: intron; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
Symptoms        Pneumonia, otitis media, sepsis
Sex             XY
Age             4.5
Ethnic origin   Korea
IgA             0.15
IgG             0.7
IgM             0.35
B cells         0
//
ID              BTK_Intron 11(6); standard; MUTATION; SH2
Accession       A0155
Systematic name g.IVS11+5G>T, c.974+5G>T, r.974+5g>u,
Original code   1203 131
Description     A point mutation in the intron 11 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1118
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62863
Feature           /change: g -> t
Feature           /genomic_region: intron; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +5
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_Intron 11(7); standard; MUTATION; SH2
Accession       A0156
Systematic name g.IVS11+5G>T, c.974+5G>T, r.974+5g>u,
Original code   1204 183
Description     A point mutation in the intron 11 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1119
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 62863
Feature           /change: g -> t
Feature           /genomic_region: intron; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +5
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_Intron 12(1a); standard; MUTATION; SH2
Accession       A0157
Description     Point mutation and deletion at intron 12 leading to stop 
Description     codon in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0029
DB CrossRef     BTKbase; A0067
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63890
Feature           /change: a -> t
Feature           /genomic_region: intron; 12
Feature           /RE: +BspGI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1103..1115
Feature           /change: -gactcatatccag
Feature           /genomic_region: exon; 13
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature           /change: L -> SNIQCLNKTR MHLPLQAWDT DHGKLIQRTX
Feature           /domain: SH2
Protein struct  Premature stop
Sex             XY
Family history  Inherited
Relative        BTKbase; A0068
Relative        BTKbase; A0069
Relative        BTKbase; A0463 grand son
//
ID              BTK_Intron 12(1b); standard; MUTATION; SH2
Accession       A0158
Description     Point mutation and deletion at intron 12 leading to stop 
Description     codon in SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0029
DB CrossRef     BTKbase; A0068
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63890
Feature           /change: a -> t
Feature           /genomic_region: intron; 12
Feature           /RE: +BspGI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1103..1115
Feature           /change: -gactcatatccag
Feature           /genomic_region: exon; 13
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature           /change: L -> SNIQCLNKTR MHLPLQAWDT DHGKLIQRTX
Feature           /domain: SH2
Protein struct  Premature stop
Sex             XY
Family history  Inherited
Relative        BTKbase; A0067
Relative        BTKbase; A0069
Relative        BTKbase; A0463
//
ID              BTK_Intron 12(1c); standard; MUTATION; SH2
Accession       A0159
Description     Point mutation at intron 12 leading stop codon SH2 domain
Date            30-May-1995 (Rel. 1, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0029
DB CrossRef     BTKbase; A0069
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63890
Feature           /change: a -> t
Feature           /genomic_region: intron; 12
Feature           /RE: +BspGI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1103..1115
Feature           /change: -gactcatatccag
Feature           /genomic_region: exon; 13
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature           /change: L -> SNIQCLNKTR MHLPLQAWDT DHGKLIQRTX
Feature           /domain: SH2
Protein struct  Premature stop
Sex             XY
Family history  Inherited
Relative        BTKbase; A0067
Relative        BTKbase; A0068
Relative        BTKbase; A0463
//
ID              BTK_Intron 12(1d); standard; MUTATION; SH2
Accession       A0160
Description     Point mutation and deletion at intron 12 leading to stop 
Description     codon in SH2 domain
Date            22-Sep-1995 (Rel. 5, Created)
Date            02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0029
DB CrossRef     BTKbase; A0463
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63890
Feature           /change: a -> t
Feature           /genomic_region: intron; 12
Feature           /RE: +BspGI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc:EMBL: X58957; GI:312466; HSATK: 1103..1115
Feature           /change: -gactcatatccag
Feature           /genomic_region: exon; 13
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature           /change: L -> SNIQCLNKTR MHLPLQAWDT DHGKLIQRTX
Feature           /domain: SH2
Protein struct  Premature stop
Sex             XY
Family history  Inherited
Relative        BTKbase; A0067 grandfather
Relative        BTKbase; A0068
Relative        BTKbase; A0069
//
ID              BTK_Intron 12(2); standard; MUTATION; SH2
Accession       A0161
Original code   G16648
Description     Deletion at intron 12
Date            16-Oct-1998 (Rel. 6, Created)
Date            16-Oct-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (16-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester; Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH;
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
DB CrossRef     BTKbase; A0519
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 63165
Feature           /change: -ggtgagtacca 
Feature           /genomic_region: intron;12
Feature           /RE: -BstDEI, -DdeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
//
ID              BTK_Intron 12(3); standard; MUTATION; SH2
Accession       A0162
Systematic name g.IVS12+1G>A, c.1102+1G>A, r.1102+1g>a,
Original code   Patient 26
Description     A point mutation in the intron 12 leading to an amino acid
Description     change in the SH2 domain
Date            23-Jun-2004 (Rel. 7, Created)
Date            23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0965
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63166
Feature           /change: g -> a
Feature           /genomic_region: intron; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
//
ID              BTK_Intron 12(4); standard; MUTATION; SH2
Accession       A0163
Systematic name g.IVS12-1G>A, c.1103-1G>A, r.1103-1g>a,
Original code   1330 284
Description     A point mutation in the intron 12 leading to an amino acid
Description     change in the SH2 domain
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1127
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63891
Feature           /change: g -> a
Feature           /genomic_region: intron; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
//
ID              BTK_Intron 12(5); standard; MUTATION; SH2
Accession       A0164
Systematic name g.IVS12+1G>A, c.1102+1G>A, r.1102+1g>a,
Original code   P7
Description     A point mutation in the intron 12 leading to an amino acid
Description     change in the SH2 domain
Date            26-May-2006 (Rel. 8, Created)
Date            26-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefAuthors      Aghamohammadi, A., Parvaneh, N., Kanegana, H., Moin, M., 
RefAuthors      Amirzargar, A. A., Farhoudi, A., Pourpak, Z., Movahedi, M.,
RefAuthors      Gharagozlou, M., Rezaei, N., Futatani, T., Miyawaki, T.
RefTitle        Screening of the Bruton tyrosine kinase (BTK) gene mutations
RefTitle        in 13 Iranian patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Iran J Allergy Asthma Immunol 3:175-179 (2004)
DB CrossRef     BTKbase; A1198
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63166
Feature           /change: g -> a
Feature           /genomic_region: intron; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH2
Diagnosis       Classical XLA
Age             5
Sex             XY
Ethnic origin   Caucasoid; Iran
Family history  De novo
IgA             0.05
IgG             0.5
IgM             0.1
B cells         <1%
//
ID              BTK_Deletion (1); standard; MUTATION; GROSS
Accession       A0165
Original code   D; BaW
Description     Large undefined deletion
Date            30-May-1995 (Rel. 1, Created)
Date            05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8380905
RefAuthors      Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors      Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors      Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle        The gene involved in X-linked agammaglobulinemia is
RefTitle        a member of the src family of protein-tyrosine kinases
RefLoc          Nature 361:226-233(1993)
DB CrossRef     BTKbase; A0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature           /note: entirely intragenic deletion
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Protein struct  Large deletion
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
IgA             0.07
IgM             0.06
//
ID              BTK_Deletion (2); standard; MUTATION; GROSS
Accession       A0166
Original code   E
Description     Large undefined deletion
Date            30-May-1995 (Rel. 1, Created)
Date            05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8380905
RefAuthors      Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors      Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors      Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle        The gene involved in X-linked agammaglobulinemia is
RefTitle        a member of the src family of protein-tyrosine kinases
RefLoc          Nature 361:226-233(1993)
DB CrossRef     BTKbase; A0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature           /note: entirely intragenic deletion
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Protein struct  Large deletion
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_Deletion (3); standard; MUTATION; GROSS
Accession       A0167
Original code   G
Description     Large undefined deletion 
Date            30-May-1995 (Rel. 1, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8380905
RefAuthors      Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors      Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors      Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle        The gene involved in X-linked agammaglobulinemia is
RefTitle        a member of the src family of protein-tyrosine kinases
RefLoc          Nature 361:226-233(1993)
DB CrossRef     BTKbase; A0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Protein struct  Large deletion
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_Deletion (4); standard; MUTATION; GROSS
Accession       A0168
Original code   H
Description     Large undefined deletion
Date            30-May-1995 (Rel. 1, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8380905
RefAuthors      Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors      Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors      Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle        The gene involved in X-linked agammaglobulinemia is
RefTitle        a member of the src family of protein-tyrosine kinases
RefLoc          Nature 361:226-233(1993)
DB CrossRef     BTKbase; A0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Protein struct  Large deletion
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_Deletion (5); standard; MUTATION; GROSS
Accession       A0169
Original code   P2
Description     Large undefined deletion
Date            26-Sep-1995 (Rel. 3, Created)
Date            09-Nov-1998 (Rel. 7, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     BTKbase; A0222
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Protein level   Absent; ref [2]
Kinase activity Inactive; ref [2]
Protein struct  Large deletion
Diagnosis       Classical XLA
Sex             XY
Age             1.3
Family history  Inherited
IgA             <0.10
IgG             <1.0
IgM             <0.10
B cells surf Ig 8
//
ID              BTK_Deletion (6); standard; MUTATION; GROSS
Accession       A0170
Original code   P18
Description     Large undefined deletion
Date            26-Sep-1995 (Rel. 3, Created)
Date            12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
DB CrossRef     BTKbase; A0223
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Protein struct  Large deletion
Sex             XY
Age             5
Family history  Inherited
IgA             <0.08
IgG             1.40
IgM             <0.5
//
ID              BTK_Deletion (8); standard; MUTATION; GROSS
Accession       A0171
Original code   P11
Description     Large deletion at the 3' terminal half
Date            19-Aug-1996 (Rel. 4, Created)
Date            02-Nov-2007 (Rel. 9, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     BTKbase; A0323
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: EMBL: U78027: 62176..>71612
Feature           /note: at the 3' terminal half
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 1020..>2132
Feature           /name: deletion; partial
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Protein level   Absent; ref [2]
Sex             XY
Age             7
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             0.31
IgG             2.11
IgM             0.51
B cells surf Ig 0.1
//
ID              BTK_Deletion (9); standard; MUTATION; GROSS
Accession       A0172
Original code   P35
Description     Large deletion at the 5' terminal half
Date            19-Aug-1996 (Rel. 4, Created)
Date            02-Nov-2007 (Rel. 9, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
DB CrossRef     BTKbase; A0324
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: EMBL: U78027: <35394..67551
Feature           /note: the 5' terminal half
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /loc: EMBL: X58957; GI:312466; HSATK: <76..1828
Feature           /name: deletion; partial
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Sex             XY
Age             2
Ethnic origin   Mongoloid; Japan
Family history  De novo
IgA             <0.06
IgG             <0.26
IgM             <0.12
B cells surf Ig 1
//
ID              BTK_Deletion (10); standard; MUTATION; GROSS
Accession       A0173
Original code   3
Description     Large undefined deletion
Date            28-Apr-1998 (Rel. 6, Created)
Date            28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0482
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature           /note: more than 30 kb
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Diagnosis       Classical XLA
Sex             XY
Family history de novo
//
ID              BTK_Deletion (11); standard; MUTATION; GROSS

Accession       A0174
Original code   0850
Description     Large undefined deletion
Date            28-Apr-1998 (Rel. 6, Created)
Date            28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0485
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature           /note: about 2.6 kb
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_Deletion (12); standard; MUTATION; GROSS
Accession       A0175
Original code   2430
Description     Large undefined deletion
Date            28-Apr-1998 (Rel. 6, Created)
Date            28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0508
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature           /note: 7.5 kb
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain:TK
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_Deletion (13); standard; MUTATION; GROSS
Accession       A0176
Original code   2433
Description     Large undefined deletion
Date            28-Apr-1998 (Rel. 6, Created)
Date            28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0509
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: unknown
Feature           /note: 12 kb
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain:TK
Diagnosis       Classical XLA
Sex             XY
Family history  Inherited
//
ID              BTK_Deletion (16); standard; MUTATION; SH2
Accession       A0177
Original code   P6
Description     Deletion of exon 2 and 3
Date            30-Nov-1999 (Rel. 7, Created)
Date            04-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10737994
RefCrossRef     Human Mutation, Mutation in Brief #312 (2000) Online
RefAuthors      Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L.
RefTitle        Bruton's tyrosine kinase mutations in 8 chinese families 
RefTitle        with X-linked agammaglobulinemia
RefLoc          Hum. Mutat. 15:355 (2000)
DB CrossRef     BTKbase; A0631
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; partial
Feature           /loc: EMBL: U78027: unknown
Feature           /changelenght: -268
Feature           /genomic_region: exon; 2.3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc: EMBL: X58957; GI:312466; HSATK: 103..372
Feature           /change: -cacacaggtg aactccagaa agaagaagct atggccgcag
Feature           /change:  tgattctgga gagcatcttt ctgaagcgat cccaacagaa
Feature           /change:  aaagaaaaca tcacctctaa acttcaagaa gcgcctgttt
Feature           /change:  ctcttgaccg tgcacaaact ctcctactat gagtatgact
Feature           /change:  ttgaacgtgg gagaagaggc agtaagaagg gttcaataga
Feature           /change:  tgttgagaag atcacttgtg ttgaaacagt ggttcctgaa
Feature           /change:  aaaaatcctc ctccagaaag acagattccg
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /domain: SH2
//
ID              BTK_Deletion (18); standard; MUTATION; GROSS
Accession       A0178
Original code   P7
Systematic name g.61578_62564del
Description     Deletion of 980 bp including the end of intron 9, exon 10 
Description     and the beginning of intron 11
Date            28-Sep-2001 (Rel. 7, Created)
Date            28-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11564824
RefAuthors      Jo, E. K., Kanegane, H., Nonoyama, S., Tsukada, S., Lee, 
RefAuthors      J. H., Lim, K., Shong, M., Song, C. H., Kim, H. J., Park, 
RefAuthors      J. K., Miyawaki, T.
RefTitle        Characterization of mutations, including a novel 
RefTitle        regulatory defect in the first intron, in Bruton's 
RefTitle        tyrosine kinase gene from seven Korean X-linked 
RefTitle        agammaglobulinemia families.
RefLoc          J. Immunol. 167:4038-4045 (2001)
DB CrossRef     BTKbase; A0793
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 61578..62564
Feature           /change: -tgtgtatata tatatataca cttttttcta ctttcaacat 
Feature           /change:  attttttatt tcaagatata tattaaaatt agtaccatct 
Feature           /change:  gaatcaaatg atgccaccac ctcaaattag tgtatctgtc 
Feature           /change:  ttacctttac cccccaaaca ccctccattt atgagagctg 
Feature           /change:  gagaggtcac catgccctca aatccagaag aatcacactc 
Feature           /change:  aaagaaaaag gagttgacga cctgatgaaa gaattaaaat 
Feature           /change:  gtcaaactgc tactgttgtc ctttcctccc taatcatgga 
Feature           /change:  agtggattgt tctcaagtgc cctagtccct gatctcttcc 
Feature           /change:  ctgcaactcc ctgctgcttg cctttgcctg ctactctcca 
Feature           /change:  tttccatgaa tcttcaatgc caacctgggt ttgggaaagg 
Feature           /change:  gatacagtgt gctatgcaca tgacagatgc tcagtaaata 
Feature           /change:  gggtttgagt gagttgactg aatcactgac atggacaagc 
Feature           /change:  cctggagggt gctgtaacct ccaatctgct tatgaccagg 
Feature           /change:  agccactcaa gcagcactct cccttcacag gtggtattcc 
Feature           /change:  aaacacatga ctcggagtca ggctgagcaa ctgctaaagc 
Feature           /change:  aagaggtaag tgtggaacca ctagcacaca gcattctcct 
Feature           /change:  tgcataagtg aggatcttga actgagggcc tgttctgccc 
Feature           /change:  cctacctttg ggcaaggcag tgtcaaagct gccatcgtct 
Feature           /change:  gggatcccaa ttacaccatt ttttttgttt ttgtttttct 
Feature           /change:  gagacggact ctcggtctgt cacccaggct ggagtgcagt 
Feature           /change:  ggcgtgatct gggctcactg caacctccgc cttctgggtt 
Feature           /change:  caagtaattc tcctacctca gcctcccaag tagctgggat 
Feature           /change:  tacaggcaca tgccaccacg cccgactaat ttttgtattt 
Feature           /change:  ttagcagaga cggggtttca ccatgttggc caggctggtc 
Feature           /change:  tcgaactcct gacctcaggt gatccgc
Feature           /genomic_region: intron; 9, exon; 10, intron 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +191
Feature           /inexloc: -215
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: SH3
Feature           /domain: SH2
Diagnosis       Classical XLA
Symptoms        Recurrent respiratory infections
Sex             XY
Age             6
Family history  De novo
Ethnic origin   Korea
IgA             0.07
IgG             0.33
IgM             0.07
B cells         0.3%
//
ID              BTK_Deletion (19); standard; MUTATION; GROSS
Accession       A0179
Systematic name g.IVS10_IVS18del
Original code   P4
Description     Deletion of 6074 bp due to unequal homologous recombination
Description     between two Alu elements
Date            21-Jul-2003 (Rel. 7, Created)
Date            21-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12768435
RefAuthors      Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. 
RefAuthors      H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, 
RefAuthors      S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T.
RefTitle        Identification of mutations in the bruton's tyrosine 
RefTitle        kinase gene, including a novel genomic rearrangements 
RefTitle        resulting in large deletion, in korean X-linked 
RefTitle        agammaglobulinemia patients.
RefLoc          J. Hum. Genet. 48:322-326 (2003)
DB CrossRef     BTKbase; A0913
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 60711
Feature           /changelenght: -6074
Feature           /genomic_region: exon; 10.18
Feature           /note: deletion between Alu at U78027:62318-62619 and
Feature           /note: Alu at U78027:68391-68559
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Protein level   Much reduced
Diagnosis       Classical XLA
Symptoms        Frequent URTI, pneumonia
Sex             XY
Age             2
Ethnic origin   Korea
IgA             0.07
IgG             0.33
IgM             0.17
B cells         0%
//
ID              BTK_Deletion (20); standard; MUTATION; GROSS
Accession       A0180
Systematic name g.IVS2_IVS3del
Original code   0064 235
Description     Deletion of 3 kb of exons 2 and 3
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1080
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /changelenght: -3 kb
Feature           /genomic_region: exon; 2.3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Diagnosis       Classical XLA
//
ID              BTK_Deletion (21); standard; MUTATION; GROSS
Accession       A0181
Original code   0704 232
Description     Deletion of 4.2 kb of exons 6 and 7 with insertion of
Description     inverted sequence from intron 5
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1095
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: complex
Feature           /genomic_region: exon; 6.7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Diagnosis       Classical XLA
//
ID              BTK_Deletion (22); standard; MUTATION; GROSS
Accession       A0182
Original code   0705 201
Description     Deletion of exons 6 and 7 
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1096
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 6.7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Diagnosis       Classical XLA
//
ID              BTK_Deletion (23); standard; MUTATION; GROSS
Accession       A0183
Original code   1205 213
Description     Deletion of 18-25 kb of exons 12-19 and deletion of DDP
Date            09-May-2006 (Rel. 8, Created)
Date            09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1120
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 12.19
Feature           /note: deletion of DDP
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Diagnosis       Classical XLA
//
ID              PIK3R1_R409Q(1); standard; MUTATION; SH2_1
Accession       A0184
Systematic name g.78635G>A, c.1226G>A, r.1226g>a, p.Arg409Gln
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the SH2_1 domain
Date            20-Feb-2008 (Rel. 1, Created)
Date            20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10768093
RefAuthors      Baynes, K. C., Beeton, C. A., Panayotou, G., Stein, R., 
RefAuthors      Soos, M., Hansen, T., Simpson, H., O'Rahilly, S., 
RefAuthors      Shepherd, P. R., Whitehead, J. P.
RefTitle        Natural variants of human p85 alpha phosphoinositide 3-
RefTitle        kinase in severe insulin resistance: a novel variant with 
RefTitle        impaired insulin-stimulated lipid kinase activity.
RefLoc          Diabetologia:321-331 (2000)
DB CrossRef     PIK3R1base; A0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PIK3R1_DNA: 78635
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_181523.1; GI:32455247; NM_181523: 1268
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P27986; P85A_HUMAN: 409
Feature           /change: R -> Q
Feature           /domain: SH2_1
Diagnosis       Severe insulin resistance
//
ID              PTPN11_T42A(1); standard; MUTATION; SH2_1
Accession       A0185
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the SH2_1 domain
Date            15-Feb-2008 (Rel. 1, Created)
Date            15-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12960218
RefAuthors      Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C., 
RefAuthors      Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V., 
RefAuthors      Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle        Correlation between PTPN11 gene mutations and congenital 
RefTitle        heart defects in noonan and LEOPARD syndromes.
RefLoc          J Med Genet:704-708 (2003)
DB CrossRef     PTPN11base; A0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 28654
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature           /codon: aca -> gca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature           /change: T -> A
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Comment         atrioventricular septal defect
//
ID              PTPN11_T42A(2); standard; MUTATION; SH2_1
Accession       A0186
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the SH2_1 domain
Date            15-Feb-2008 (Rel. 1, Created)
Date            15-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12960218
RefAuthors      Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C., 
RefAuthors      Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V., 
RefAuthors      Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle        Correlation between PTPN11 gene mutations and congenital 
RefTitle        heart defects in noonan and LEOPARD syndromes.
RefLoc          J Med Genet:704-708 (2003)
DB CrossRef     PTPN11base; A0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 28654
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature           /codon: aca -> gca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature           /change: T -> A
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Comment         hypertrophic cardiomyopathy
//
ID              PTPN11_T42A(3); standard; MUTATION; SH2_1
Accession       A0187
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 28654
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature           /codon: aca -> gca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature           /change: T -> A
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_T42A(4); standard; MUTATION; SH2_1
Accession       A0188
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 28654
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature           /codon: aca -> gca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature           /change: T -> A
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_T42A(5); standard; MUTATION; SH2_1
Accession       A0189
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 28654
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature           /codon: aca -> gca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature           /change: T -> A
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_N58D(1); standard; MUTATION; SH2_1
Accession       A0190
Systematic name g.32621A>G, c.172A>G, r.172a>g, p.Asn58Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32621
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 552
Feature           /codon: aac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 58
Feature           /change: N -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_N58K(1); standard; MUTATION; SH2_1
Accession       A0191
Systematic name g.32623C>G, c.174C>G, r.174c>g, p.Asn58Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)
DB CrossRef     PTPN11base; A0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32623
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 554
Feature           /codon: aac -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 58
Feature           /change: N -> K
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_N58Y(1); standard; MUTATION; SH2_1
Accession       A0192
Systematic name g.32621A>T, c.172A>T, r.172a>u, p.Asn58Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood:307-313 (2004)
DB CrossRef     PTPN11base; A0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32621
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 552
Feature           /codon: aac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 58
Feature           /change: N -> Y
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_G60A(1); standard; MUTATION; SH2_1
Accession       A0193
Systematic name g.32628G>C, c.179G>C, r.179g>c, p.Gly60Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0010
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> A
Feature           /domain: SH2_1
//
ID              PTPN11_G60A(2); standard; MUTATION; SH2_1
Accession       A0194
Systematic name g.32628G>C, c.179G>C, r.179g>c, p.Gly60Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0011
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> A
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_G60A(3); standard; MUTATION; SH2_1
Accession       A0195
Systematic name g.32628G>C, c.179G>C, r.179g>c, p.Gly60Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16643459
RefAuthors      Roti, G., La Starza, R., Ballanti, S., Crescenzi, B., 
RefAuthors      Romoli, S., Foa, R., Tartaglia, M., Aversa, F., Fabrizio 
RefAuthors      Martelli, M., Mecucci, C.
RefTitle        Acute lymphoblastic leukaemia in noonan syndrome.
RefLoc          Br J Haematol:448-450 (2006)
DB CrossRef     PTPN11base; A0012
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> A
Feature           /domain: SH2_1
//
ID              PTPN11_G60R(1); standard; MUTATION; SH2_1
Accession       A0196
Systematic name g.32627G>C, c.178G>C, r.178g>c, p.Gly60Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0024
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32627
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 558
Feature           /codon: ggt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> R
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(1); standard; MUTATION; SH2_1
Accession       A0197
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0013
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       MDS
//
ID              PTPN11_G60V(2); standard; MUTATION; SH2_1
Accession       A0198
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0014
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3

Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(3); standard; MUTATION; SH2_1
Accession       A0199
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0015
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(4); standard; MUTATION; SH2_1
Accession       A0200
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0016
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(5); standard; MUTATION; SH2_1
Accession       A0201
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0017
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(6); standard; MUTATION; SH2_1
Accession       A0202
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0018
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(7); standard; MUTATION; SH2_1
Accession       A0203
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0019
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(8); standard; MUTATION; SH2_1
Accession       A0204
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0020
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(9); standard; MUTATION; SH2_1
Accession       A0205
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0021
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(10); standard; MUTATION; SH2_1
Accession       A0206
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0022
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_G60V(11); standard; MUTATION; SH2_1
Accession       A0207
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16533526
RefAuthors      Yamamoto, T., Isomura, M., Xu, Y., Liang, J., Yagasaki, 
RefAuthors      H., Kamachi, Y., Kudo, K., Kiyoi, H., Naoe, T., Kojma, S.
RefTitle        PTPN11, RAS and FLT3 mutations in childhood acute 
RefTitle        lymphoblastic leukemia.
RefLoc          Leuk Res:1085-1089 (2006)
DB CrossRef     PTPN11base; A0023
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32628
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature           /change: G -> V
Feature           /domain: SH2_1
Diagnosis        Acute lymphoblastic leukemia  
//
ID              PTPN11_D61G(1); standard; MUTATION; SH2_1
Accession       A0208
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0025
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_D61G(2); standard; MUTATION; SH2_1
Accession       A0209
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0026
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_D61G(3); standard; MUTATION; SH2_1
Accession       A0210
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11704759
RefAuthors      Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., 
RefAuthors      Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. 
RefAuthors      H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A., 
RefAuthors      Kucherlapati, R. S., Gelb, B. D.
RefTitle        Mutations in PTPN11, encoding the protein tyrosine 
RefTitle        phosphatase SHP-2, cause noonan syndrome.
RefLoc          Nat Genet:465-468 (2001)
DB CrossRef     PTPN11base; A0027
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_D61G(4); standard; MUTATION; SH2_1
Accession       A0211
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12161469
RefAuthors      Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, 
RefAuthors      S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y., 
RefAuthors      Ogata, T.
RefTitle        PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) 
RefTitle        mutations in seven japanese patients with noonan syndrome.
RefLoc          J Clin Endocrinol Metab:3529-3533 (2002)
DB CrossRef     PTPN11base; A0028
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_D61G(5); standard; MUTATION; SH2_1
Accession       A0212
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)
DB CrossRef     PTPN11base; A0029
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_D61G(6); standard; MUTATION; SH2_1
Accession       A0213
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)
DB CrossRef     PTPN11base; A0030
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_D61G(7); standard; MUTATION; SH2_1
Accession       A0214
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0031
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_D61G(8); standard; MUTATION; SH2_1
Accession       A0215
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0032
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61G(9); standard; MUTATION; SH2_1
Accession       A0216
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0033
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / MPD
//
ID              PTPN11_D61G(10); standard; MUTATION; SH2_1
Accession       A0217
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0034
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / MPD
//
ID              PTPN11_D61G(11); standard; MUTATION; SH2_1
Accession       A0218
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16533526
RefAuthors      Yamamoto, T., Isomura, M., Xu, Y., Liang, J., Yagasaki, 
RefAuthors      H., Kamachi, Y., Kudo, K., Kiyoi, H., Naoe, T., Kojma, S.
RefTitle        PTPN11, RAS and FLT3 mutations in childhood acute 
RefTitle        lymphoblastic leukemia.
RefLoc          Leuk Res:1085-1089 (2006)
DB CrossRef     PTPN11base; A0035
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> G
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia (ALL)
//
ID              PTPN11_D61N(1); standard; MUTATION; SH2_1
Accession       A0219
Systematic name g.32630G>A, c.181G>A, r.181g>a, p.Asp61Asn
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0059
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> aat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> N
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_D61N(2); standard; MUTATION; SH2_1
Accession       A0220
Systematic name g.32630G>A, c.181G>A, r.181g>a, p.Asp61Asn
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood 103:2325-2331 (2004)
DB CrossRef     PTPN11base; A0060
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> aat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> N
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61N(3); standard; MUTATION; SH2_1
Accession       A0221
Systematic name g.32630G>A, c.181G>A, r.181g>a, p.Asp61Asn
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet 11:201-206 (2003)
DB CrossRef     PTPN11base; A0061
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> aat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> N
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_D61V(1); standard; MUTATION; SH2_1
Accession       A0222
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood:307-313 (2004)
DB CrossRef     PTPN11base; A0036
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_D61V(2); standard; MUTATION; SH2_1
Accession       A0223
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0037
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61V(3); standard; MUTATION; SH2_1
Accession       A0224
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0038
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       MDS
//
ID              PTPN11_D61V(4); standard; MUTATION; SH2_1
Accession       A0225
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0039
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61V(5); standard; MUTATION; SH2_1
Accession       A0226
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0040
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61V(6); standard; MUTATION; SH2_1
Accession       A0227
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0041
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61V(7); standard; MUTATION; SH2_1
Accession       A0228
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0042
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61V(8); standard; MUTATION; SH2_1
Accession       A0229
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0043
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61V(9); standard; MUTATION; SH2_1
Accession       A0230
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0044
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61V(10); standard; MUTATION; SH2_1
Accession       A0231
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16518851
RefAuthors      Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada, 
RefAuthors      R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M., 
RefAuthors      Shimada, A., Hayashi, Y.
RefTitle        Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma 
RefTitle        and pediatric hematological malignancies.
RefLoc          Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef     PTPN11base; A0045
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       MDS
//
ID              PTPN11_D61V(11); standard; MUTATION; SH2_1
Accession       A0232
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Original code   63
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17910045
RefAuthors      Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F., 
RefAuthors      Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A., 
RefAuthors      Fioretos, T., Johansson, B.
RefTitle        Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and 
RefTitle        possibly mutually exclusive in high hyperdiploid childhood 
RefTitle        acute lymphoblastic leukemia.
RefLoc          Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef     PTPN11base; A0238
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32631
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> V
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia
Age             11
Sex             XY
//
ID              PTPN11_D61Y(1); standard; MUTATION; SH2_1
Accession       A0233
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0046
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia
//
ID              PTPN11_D61Y(2); standard; MUTATION; SH2_1
Accession       A0234
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet 34:148-150 (2003)
DB CrossRef     PTPN11base; A0047
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(3); standard; MUTATION; SH2_1
Accession       A0235
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet 34:148-150 (2003)
DB CrossRef     PTPN11base; A0048
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(4); standard; MUTATION; SH2_1
Accession       A0236
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet 34:148-150 (2003)
DB CrossRef     PTPN11base; A0049
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(5); standard; MUTATION; SH2_1
Accession       A0237
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet 34:148-150 (2003)
DB CrossRef     PTPN11base; A0050
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(6); standard; MUTATION; SH2_1
Accession       A0238
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet 34:148-150 (2003)
DB CrossRef     PTPN11base; A0051
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(7); standard; MUTATION; SH2_1
Accession       A0239
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0052
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(8); standard; MUTATION; SH2_1
Accession       A0240
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0053
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(9); standard; MUTATION; SH2_1
Accession       A0241
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0054
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(10); standard; MUTATION; SH2_1
Accession       A0242
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0055
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(11); standard; MUTATION; SH2_1
Accession       A0243
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0056
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(12); standard; MUTATION; SH2_1
Accession       A0244
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0057
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(13); standard; MUTATION; SH2_1
Accession       A0245
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood 106:2183-2185 (2005)
DB CrossRef     PTPN11base; A0058
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_D61Y(14); standard; MUTATION; SH2_1
Accession       A0246
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Original code   D172
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17353900
RefAuthors      Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G., 
RefAuthors      Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J. 
RefAuthors      R., Niemeyer, C. M.
RefTitle        Genome-wide single-nucleotide polymorphism analysis in 
RefTitle        juvenile myelomonocytic leukemia identifies uniparental 
RefTitle        disomy surrounding the NF1 locus in cases associated with 
RefTitle        neurofibromatosis but not in cases with mutant RAS or 
RefTitle        PTPN11.
RefLoc          Oncogene:5816-5821 (2007)
DB CrossRef     PTPN11base; A0228
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
Age             6.6
Sex             XY
//
ID              PTPN11_D61Y(15); standard; MUTATION; SH2_1
Accession       A0247
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Original code   D257
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17353900
RefAuthors      Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G., 
RefAuthors      Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J. 
RefAuthors      R., Niemeyer, C. M.
RefTitle        Genome-wide single-nucleotide polymorphism analysis in 
RefTitle        juvenile myelomonocytic leukemia identifies uniparental 
RefTitle        disomy surrounding the NF1 locus in cases associated with 
RefTitle        neurofibromatosis but not in cases with mutant RAS or 
RefTitle        PTPN11.
RefLoc          Oncogene:5816-5821 (2007)
DB CrossRef     PTPN11base; A0229
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
Age             0.2
Sex             XX
//
ID              PTPN11_D61Y(16); standard; MUTATION; SH2_1
Accession       A0248
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Original code   D275
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17353900
RefAuthors      Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G., 
RefAuthors      Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J. 
RefAuthors      R., Niemeyer, C. M.
RefTitle        Genome-wide single-nucleotide polymorphism analysis in 
RefTitle        juvenile myelomonocytic leukemia identifies uniparental 
RefTitle        disomy surrounding the NF1 locus in cases associated with 
RefTitle        neurofibromatosis but not in cases with mutant RAS or 
RefTitle        PTPN11.
RefLoc          Oncogene:5816-5821 (2007)
DB CrossRef     PTPN11base; A0230
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32630
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature           /change: D -> Y
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
Age             3.8
Sex             XY
//
ID              PTPN11_Y62D(1); standard; MUTATION; SH2_1
Accession       A0249
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12960218
RefAuthors      Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C., 
RefAuthors      Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V., 
RefAuthors      Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle        Correlation between PTPN11 gene mutations and congenital 
RefTitle        heart defects in noonan and LEOPARD syndromes.
RefLoc          J Med Genet 40:704-708 (2003)
DB CrossRef     PTPN11base; A0062
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32633
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature           /change: Y -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Comment         Symptoms: pulmonary valve stenosis; atrial septal defect
//
ID              PTPN11_Y62D(2); standard; MUTATION; SH2_1
Accession       A0250
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet 70:1555-1563 (2002)
DB CrossRef     PTPN11base; A0063
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32633
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature           /change: Y -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y62D(3); standard; MUTATION; SH2_1
Accession       A0251
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet 70:1555-1563 (2002)
DB CrossRef     PTPN11base; A0064
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32633
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature           /change: Y -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y62D(4); standard; MUTATION; SH2_1
Accession       A0252
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet 70:1555-1563 (2002)
DB CrossRef     PTPN11base; A0065
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32633
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature           /change: Y -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / juvenile myelomonocytic leukemia
//
ID              PTPN11_Y62D(5); standard; MUTATION; SH2_1
Accession       A0253
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            16-Feb-2008 (Rel. 1, Created)
Date            16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet 11:201-206 (2003)
DB CrossRef     PTPN11base; A0066
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32633
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature           /change: Y -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y62D(6); standard; MUTATION; SH2_1
Accession       A0254
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12325025
RefAuthors      Maheshwari, M., Belmont, J., Fernbach, S., Ho, T., 
RefAuthors      Molinari, L., Yakub, I., Yu, F., Combes, A., Towbin, J., 
RefAuthors      Craigen, W. J., Gibbs, R.
RefTitle        PTPN11 mutations in noonan syndrome type I: detection of 
RefTitle        recurrent mutations in exons 3 and 13.
RefLoc          Hum Mutat:298-304 (2002)
DB CrossRef     PTPN11base; A0067
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32633
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature           /change: Y -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y62D(7); standard; MUTATION; SH2_1
Accession       A0255
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0068
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32633
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature           /change: Y -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y62D(8); standard; MUTATION; SH2_1
Accession       A0256
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0069
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32633
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature           /change: Y -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y62D(9); standard; MUTATION; SH2_1
Accession       A0257
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0070
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32633
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature           /change: Y -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(1); standard; MUTATION; SH2_1
Accession       A0258
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12960218
RefAuthors      Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C., 
RefAuthors      Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V., 
RefAuthors      Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle        Correlation between PTPN11 gene mutations and congenital 
RefTitle        heart defects in noonan and LEOPARD syndromes.
RefLoc          J Med Genet 40:704-708 (2003)      
DB CrossRef     PTPN11base; A0071
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Comment         Symptoms: atrioventricular septal defect
//
ID              PTPN11_Y63C(2); standard; MUTATION; SH2_1
Accession       A0259
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12960218
RefAuthors      Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C., 
RefAuthors      Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V., 
RefAuthors      Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle        Correlation between PTPN11 gene mutations and congenital 
RefTitle        heart defects in noonan and LEOPARD syndromes.
RefLoc          J Med Genet 40:704-708 (2003)       
DB CrossRef     PTPN11base; A0072
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Comment         Symptoms: atrial septal defect
//
ID              PTPN11_Y63C(3); standard; MUTATION; SH2_1
Accession       A0260
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12960218
RefAuthors      Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C., 
RefAuthors      Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V., 
RefAuthors      Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle        Correlation between PTPN11 gene mutations and congenital 
RefTitle        heart defects in noonan and LEOPARD syndromes.
RefLoc          J Med Genet 40:704-708 (2003)      
DB CrossRef     PTPN11base; A0073
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Comment         Symptoms: pulmonary valve stenosis (familial)
//
ID              PTPN11_Y63C(4); standard; MUTATION; SH2_1
Accession       A0261
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)      
DB CrossRef     PTPN11base; A0074
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(5); standard; MUTATION; SH2_1
Accession       A0262
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)      
DB CrossRef     PTPN11base; A0075
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(6); standard; MUTATION; SH2_1
Accession       A0263
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)       
DB CrossRef     PTPN11base; A0076
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(7); standard; MUTATION; SH2_1
Accession       A0264
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)      
DB CrossRef     PTPN11base; A0077
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(8); standard; MUTATION; SH2_1
Accession       A0265
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11704759
RefAuthors      Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., 
RefAuthors      Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. 
RefAuthors      H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A., 
RefAuthors      Kucherlapati, R. S., Gelb, B. D.
RefTitle        Mutations in PTPN11, encoding the protein tyrosine 
RefTitle        phosphatase SHP-2, cause noonan syndrome.
RefLoc          Nat Genet:465-468 (2001)      
DB CrossRef     PTPN11base; A0078
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(9); standard; MUTATION; SH2_1
Accession       A0266
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12161469
RefAuthors      Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, 
RefAuthors      S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y., 
RefAuthors      Ogata, T.
RefTitle        PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) 
RefTitle        mutations in seven japanese patients with noonan syndrome.
RefLoc          J Clin Endocrinol Metab:3529-3533 (2002)       
DB CrossRef     PTPN11base; A0079
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(10); standard; MUTATION; SH2_1
Accession       A0267
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12161469
RefAuthors      Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, 
RefAuthors      S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y., 
RefAuthors      Ogata, T.
RefTitle        PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) 
RefTitle        mutations in seven japanese patients with noonan syndrome.
RefLoc          J Clin Endocrinol Metab:3529-3533 (2002)      
DB CrossRef     PTPN11base; A0080
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(11); standard; MUTATION; SH2_1
Accession       A0268
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)      
DB CrossRef     PTPN11base; A0081
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(12); standard; MUTATION; SH2_1
Accession       A0269
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)      
DB CrossRef     PTPN11base; A0082
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(13); standard; MUTATION; SH2_1
Accession       A0270
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)      
DB CrossRef     PTPN11base; A0083
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(14); standard; MUTATION; SH2_1
Accession       A0271
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)      
DB CrossRef     PTPN11base; A0084
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(15); standard; MUTATION; SH2_1
Accession       A0272
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12325025
RefAuthors      Maheshwari, M., Belmont, J., Fernbach, S., Ho, T., 
RefAuthors      Molinari, L., Yakub, I., Yu, F., Combes, A., Towbin, J., 
RefAuthors      Craigen, W. J., Gibbs, R.
RefTitle        PTPN11 mutations in noonan syndrome type I: detection of 
RefTitle        recurrent mutations in exons 3 and 13.
RefLoc          Hum Mutat:298-304 (2002)       
DB CrossRef     PTPN11base; A0085
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(16); standard; MUTATION; SH2_1
Accession       A0273
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12325025
RefAuthors      Maheshwari, M., Belmont, J., Fernbach, S., Ho, T., 
RefAuthors      Molinari, L., Yakub, I., Yu, F., Combes, A., Towbin, J., 
RefAuthors      Craigen, W. J., Gibbs, R.
RefTitle        PTPN11 mutations in noonan syndrome type I: detection of 
RefTitle        recurrent mutations in exons 3 and 13.
RefLoc          Hum Mutat:298-304 (2002)      
DB CrossRef     PTPN11base; A0086
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(17); standard; MUTATION; SH2_1
Accession       A0274
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)     
DB CrossRef     PTPN11base; A0087
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(18); standard; MUTATION; SH2_1
Accession       A0275
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)      
DB CrossRef     PTPN11base; A0088
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Y63C(19); standard; MUTATION; SH2_1
Accession       A0276
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17497712
RefAuthors      Becker, K., Hughes, H., Howard, K., Armstrong, M., 
RefAuthors      Roberts, D., Lazda, E. J., Short, J. P., Shaw, A., Patton, 
RefAuthors      M. A., Tartaglia, M.
RefTitle        Early fetal death associated with compound heterozygosity 
RefTitle        for noonan syndrome-causative PTPN11 mutations.
RefLoc          Am J Med Genet A:1249-1252 (2007)
DB CrossRef     PTPN11base; A0233
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Sex             XY
Relative        Description of pedigree:A0234: daughter
//
ID              PTPN11_Y63C(20); standard; MUTATION; SH2_1
Accession       A0277
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17497712
RefAuthors      Becker, K., Hughes, H., Howard, K., Armstrong, M., 
RefAuthors      Roberts, D., Lazda, E. J., Short, J. P., Shaw, A., Patton, 
RefAuthors      M. A., Tartaglia, M.
RefTitle        Early fetal death associated with compound heterozygosity 
RefTitle        for noonan syndrome-causative PTPN11 mutations.
RefLoc          Am J Med Genet A:1249-1252 (2007)
DB CrossRef     PTPN11base; A0234
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32637
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature           /change: Y -> C
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Sex             XX
Relative        Description of pedigree:A0233: father
Comment         The patient was a fetus, demised at the age of 12 weeks.
Comment         The DNA analysis from autopsy fetal muscle confirmed
Comment         compound heterozygosity for the parental Y63C and N308S
Comment         mutations.
//
ID              PTPN11_E69K(1); standard; MUTATION; SH2_1
Accession       A0278
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)       
DB CrossRef     PTPN11base; A0089
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_E69K(2); standard; MUTATION; SH2_1
Accession       A0279
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)      
DB CrossRef     PTPN11base; A0090
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_E69K(3); standard; MUTATION; SH2_1
Accession       A0280
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)       
DB CrossRef     PTPN11base; A0091
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E69K(4); standard; MUTATION; SH2_1
Accession       A0281
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)      
DB CrossRef     PTPN11base; A0092
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E69K(5); standard; MUTATION; SH2_1
Accession       A0282
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)       
DB CrossRef     PTPN11base; A0093
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E69K(6); standard; MUTATION; SH2_1
Accession       A0283
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)      
DB CrossRef     PTPN11base; A0094
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       MDS
//
ID              PTPN11_E69K(7); standard; MUTATION; SH2_1
Accession       A0284
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)     
DB CrossRef     PTPN11base; A0095
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E69K(8); standard; MUTATION; SH2_1
Accession       A0285
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16533526
RefAuthors      Yamamoto, T., Isomura, M., Xu, Y., Liang, J., Yagasaki, 
RefAuthors      H., Kamachi, Y., Kudo, K., Kiyoi, H., Naoe, T., Kojma, S.
RefTitle        PTPN11, RAS and FLT3 mutations in childhood acute 
RefTitle        lymphoblastic leukemia.
RefLoc          Leuk Res:1085-1089 (2006)      
DB CrossRef     PTPN11base; A0096
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia (ALL)
//
ID              PTPN11_E69K(9); standard; MUTATION; SH2_1
Accession       A0286
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Original code   8
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17910045
RefAuthors      Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F., 
RefAuthors      Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A., 
RefAuthors      Fioretos, T., Johansson, B.
RefTitle        Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and 
RefTitle        possibly mutually exclusive in high hyperdiploid childhood 
RefTitle        acute lymphoblastic leukemia.
RefLoc          Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef     PTPN11base; A0235
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia
Age             3
Sex             XX
//
ID              PTPN11_E69K(10); standard; MUTATION; SH2_1
Accession       A0287
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Original code   860
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0251
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             50
Sex             XX
//
ID              PTPN11_E69Q(1); standard; MUTATION; SH2_1
Accession       A0288
Systematic name g.32654G>C, c.205G>C, r.205g>c, p.Glu69Gln
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)
DB CrossRef     PTPN11base; A0097
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> Q
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_E69Q(2); standard; MUTATION; SH2_1
Accession       A0289
Systematic name g.32654G>C, c.205G>C, r.205g>c, p.Glu69Gln
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0098
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32654
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature           /codon: gag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature           /change: E -> Q
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_F71K(1); standard; MUTATION; SH2_1
Accession       A0290
Systematic name g., c., r., p.Phe71Lys
Description     A complex mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0099
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: complex
Feature           /loc: SH2base: PTPN11_DNA: 32660..32662
Feature           /change: ttt -> aaa
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 
Feature           /loc: 591..593
Feature           /codon: ttt -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 71
Feature           /change: F -> K
Feature           /domain: SH2_1
Diagnosis       AML
//
ID              PTPN11_F71L(1); standard; MUTATION; SH2_1
Accession       A0291
Systematic name g.32662T>A, c.213T>A, r.213u>a, p.Phe71Leu
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0100
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32662
Feature           /change: t -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 593
Feature           /codon: ttt -> tta; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 71
Feature           /change: F -> L
Feature           /domain: SH2_1
Diagnosis       MDS
//
ID              PTPN11_F71L(2); standard; MUTATION; SH2_1
Accession       A0292
Systematic name g.32660T>C, c.211T>C, r.211u>c, p.Phe71Leu
Original code   859
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0240
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32660
Feature           /change: t -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 591
Feature           /codon: ttt -> ctt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 71
Feature           /change: F -> L
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             71
Sex             XY
//
ID              PTPN11_A72D(1); standard; MUTATION; SH2_1
Accession       A0293
Systematic name g.32664C>A, c.215C>A, r.215c>a, p.Ala72Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0106
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> D
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - Pre-B    
//
ID              PTPN11_A72D(2); standard; MUTATION; SH2_1
Accession       A0294
Systematic name g.32664C>A, c.215C>A, r.215c>a, p.Ala72Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16518851
RefAuthors      Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada, 
RefAuthors      R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M., 
RefAuthors      Shimada, A., Hayashi, Y.
RefTitle        Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma 
RefTitle        and pediatric hematological malignancies.
RefLoc          Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef     PTPN11base; A0107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> D
Feature           /domain: SH2_1
Diagnosis       Acute myelogenous leukemia (AML)
//
ID              PTPN11_A72G(1); standard; MUTATION; SH2_1
Accession       A0295
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12960218
RefAuthors      Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C., 
RefAuthors      Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V., 
RefAuthors      Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle        Correlation between PTPN11 gene mutations and congenital 
RefTitle        heart defects in noonan and LEOPARD syndromes.
RefLoc          J Med Genet 40:704-708 (2003)
DB CrossRef     PTPN11base; A0101
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Comment         Symptoms: hypertrophic cardiomyopathy; mitral valve anomaly
//
ID              PTPN11_A72G(2); standard; MUTATION; SH2_1
Accession       A0296
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0102
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_A72G(3); standard; MUTATION; SH2_1
Accession       A0297
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11704759
RefAuthors      Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., 
RefAuthors      Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. 
RefAuthors      H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A., 
RefAuthors      Kucherlapati, R. S., Gelb, B. D.
RefTitle        Mutations in PTPN11, encoding the protein tyrosine 
RefTitle        phosphatase SHP-2, cause noonan syndrome.
RefLoc          Nat Genet:465-468 (2001)
DB CrossRef     PTPN11base; A0103
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_A72G(4); standard; MUTATION; SH2_1
Accession       A0298
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0104
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_A72G(5); standard; MUTATION; SH2_1
Accession       A0299
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan
RefTitle        syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0105
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> G
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome - MPD
//
ID              PTPN11_A72S(1); standard; MUTATION; SH2_1
Accession       A0300
Systematic name g.32663G>T, c.214G>T, r.214g>u, p.Ala72Ser
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11704759
RefAuthors      Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., 
RefAuthors      Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. 
RefAuthors      H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A., 
RefAuthors      Kucherlapati, R. S., Gelb, B. D.
RefTitle        Mutations in PTPN11, encoding the protein tyrosine 
RefTitle        phosphatase SHP-2, cause noonan syndrome.
RefLoc          Nat Genet:465-468 (2001)
DB CrossRef     PTPN11base; A0108
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> S
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_A72S(2); standard; MUTATION; SH2_1
Accession       A0301
Systematic name g.32663G>T, c.214G>T, r.214g>u, p.Ala72Ser
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12161469
RefAuthors      Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, 
RefAuthors      S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y., 
RefAuthors      Ogata, T.
RefTitle        PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) 
RefTitle        mutations in seven japanese patients with noonan syndrome.
RefLoc          J Clin Endocrinol Metab:3529-3533 (2002)
DB CrossRef     PTPN11base; A0109
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> S
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_A72T(1); standard; MUTATION; SH2_1
Accession       A0302
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0110
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_A72T(2); standard; MUTATION; SH2_1
Accession       A0303
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0111
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72T(3); standard; MUTATION; SH2_1
Accession       A0304
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0112
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72T(4); standard; MUTATION; SH2_1
Accession       A0305
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0113
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72T(5); standard; MUTATION; SH2_1
Accession       A0306
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0114
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72T(6); standard; MUTATION; SH2_1
Accession       A0307
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0115
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72T(7); standard; MUTATION; SH2_1
Accession       A0308
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0116
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72T(8); standard; MUTATION; SH2_1
Accession       A0309
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0117
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72T(9); standard; MUTATION; SH2_1
Accession       A0310
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0118
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72T(10); standard; MUTATION; SH2_1
Accession       A0311
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0119
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72T(11); standard; MUTATION; SH2_1
Accession       A0312
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16518851
RefAuthors      Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada, 
RefAuthors      R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M., 
RefAuthors      Shimada, A., Hayashi, Y.
RefTitle        Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma 
RefTitle        and pediatric hematological malignancies.
RefLoc          Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef     PTPN11base; A0120
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Rhabdomyosarcoma
//
ID              PTPN11_A72T(12); standard; MUTATION; SH2_1
Accession       A0313
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code   145
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17330262
RefAuthors      Christiansen, D. H., Desta, F., Andersen, M. K., Pedersen-
RefAuthors      Bjergaard, J.
RefTitle        Mutations of the PTPN11 gene in therapy-related MDS and 
RefTitle        AML with rare balanced chromosome translocations.
RefLoc          Genes Chromosomes Cancer:517-521 (2007)
DB CrossRef     PTPN11base; A0224
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       MDS/AML
Age             57
Sex             XX
Comment         Primary tumor: Breast cancer, stage II
//
ID              PTPN11_A72T(13); standard; MUTATION; SH2_1
Accession       A0314
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code   170
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17330262
RefAuthors      Christiansen, D. H., Desta, F., Andersen, M. K., Pedersen-
RefAuthors      Bjergaard, J.
RefTitle        Mutations of the PTPN11 gene in therapy-related MDS and 
RefTitle        AML with rare balanced chromosome translocations.
RefLoc          Genes Chromosomes Cancer:517-521 (2007)
DB CrossRef     PTPN11base; A0225
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       AML
Age             68
Sex             XY
Comment         Primary tumor: Multiple myeloma
//
ID              PTPN11_A72T(14); standard; MUTATION; SH2_1
Accession       A0315
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code   D124
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17353900
RefAuthors      Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G., 
RefAuthors      Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J. 
RefAuthors      R., Niemeyer, C. M.
RefTitle        Genome-wide single-nucleotide polymorphism analysis in 
RefTitle        juvenile myelomonocytic leukemia identifies uniparental 
RefTitle        disomy surrounding the NF1 locus in cases associated with 
RefTitle        neurofibromatosis but not in cases with mutant RAS or 
RefTitle        PTPN11.
RefLoc          Oncogene:5816-5821 (2007)
DB CrossRef     PTPN11base; A0227
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
Age             5
Sex             XY
//
ID              PTPN11_A72T(15); standard; MUTATION; SH2_1
Accession       A0316
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code   411
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0242
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             39
Sex             XY
//
ID              PTPN11_A72T(16); standard; MUTATION; SH2_1
Accession       A0317
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code   474
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0244
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             47
Sex             XY
//
ID              PTPN11_A72T(17); standard; MUTATION; SH2_1
Accession       A0318
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code   791
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0249
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32663
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> T
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             52
Sex             XY
//
ID              PTPN11_A72V(1); standard; MUTATION; SH2_1
Accession       A0319
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0121
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_A72V(2); standard; MUTATION; SH2_1
Accession       A0320
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0122
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_A72V(3); standard; MUTATION; SH2_1
Accession       A0321
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0123
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_A72V(4); standard; MUTATION; SH2_1
Accession       A0322
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0124
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_A72V(5); standard; MUTATION; SH2_1
Accession       A0323
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0125
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_A72V(6); standard; MUTATION; SH2_1
Accession       A0324
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0126
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72V(7); standard; MUTATION; SH2_1
Accession       A0325
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0127
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72V(8); standard; MUTATION; SH2_1
Accession       A0326
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0128
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72V(9); standard; MUTATION; SH2_1
Accession       A0327
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0129
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72V(10); standard; MUTATION; SH2_1
Accession       A0328
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0130
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72V(11); standard; MUTATION; SH2_1
Accession       A0329
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0131
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72V(12); standard; MUTATION; SH2_1
Accession       A0330
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0132
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_A72V(13); standard; MUTATION; SH2_1
Accession       A0331
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16518851
RefAuthors      Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada, 
RefAuthors      R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M., 
RefAuthors      Shimada, A., Hayashi, Y.
RefTitle        Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma 
RefTitle        and pediatric hematological malignancies.
RefLoc          Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef     PTPN11base; A0133
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       AML
//
ID              PTPN11_A72V(14); standard; MUTATION; SH2_1
Accession       A0332
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Original code   D368
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17353900
RefAuthors      Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G., 
RefAuthors      Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J. 
RefAuthors      R., Niemeyer, C. M.
RefTitle        Genome-wide single-nucleotide polymorphism analysis in 
RefTitle        juvenile myelomonocytic leukemia identifies uniparental 
RefTitle        disomy surrounding the NF1 locus in cases associated with 
RefTitle        neurofibromatosis but not in cases with mutant RAS or 
RefTitle        PTPN11.
RefLoc          Oncogene:5816-5821 (2007)
DB CrossRef     PTPN11base; A0231
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
Age             0.6
Sex             XY
//
ID              PTPN11_A72V(15); standard; MUTATION; SH2_1
Accession       A0333
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Original code   45
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17910045
RefAuthors      Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F., 
RefAuthors      Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A., 
RefAuthors      Fioretos, T., Johansson, B.
RefTitle        Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and 
RefTitle        possibly mutually exclusive in high hyperdiploid childhood 
RefTitle        acute lymphoblastic leukemia.
RefLoc          Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef     PTPN11base; A0237
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia
Age             5
Sex             XY
//
ID              PTPN11_A72V(16); standard; MUTATION; SH2_1
Accession       A0334
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Original code   709
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0247
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             72
Sex             XY
//
ID              PTPN11_A72V(17); standard; MUTATION; SH2_1
Accession       A0335
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Original code   811
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0248
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32664
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature           /change: A -> V
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             64
Sex             XY
//
ID              PTPN11_T73I(1); standard; MUTATION; SH2_1
Accession       A0336
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0134
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_T73I(2); standard; MUTATION; SH2_1
Accession       A0337
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0135
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / juvenile myelomonocytic leukemia
//
ID              PTPN11_T73I(3); standard; MUTATION; SH2_1
Accession       A0338
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0136
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / juvenile myelomonocytic leukemia
//
ID              PTPN11_T73I(4); standard; MUTATION; SH2_1
Accession       A0339
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0137
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / juvenile myelomonocytic leukemia
//
ID              PTPN11_T73I(5); standard; MUTATION; SH2_1
Accession       A0340
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0138
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / juvenile myelomonocytic leukemia
//
ID              PTPN11_T73I(6); standard; MUTATION; SH2_1
Accession       A0341
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0139
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Growth retardation/pulmonic stenosis/juvenile 
Diagnosis       myelomonocytic leukemia
//
ID              PTPN11_T73I(7); standard; MUTATION; SH2_1
Accession       A0342
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0140
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / juvenile myelomonocytic leukemia
//
ID              PTPN11_T73I(8); standard; MUTATION; SH2_1
Accession       A0343
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12161469
RefAuthors      Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, 
RefAuthors      S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y., 
RefAuthors      Ogata, T.
RefTitle        PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) 
RefTitle        mutations in seven japanese patients with noonan syndrome.
RefLoc          J Clin Endocrinol Metab:3529-3533 (2002)
DB CrossRef     PTPN11base; A0141
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_T73I(9); standard; MUTATION; SH2_1
Accession       A0344
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)
DB CrossRef     PTPN11base; A0142
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_T73I(10); standard; MUTATION; SH2_1
Accession       A0345
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0143
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_T73I(11); standard; MUTATION; SH2_1
Accession       A0346
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0144
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_T73I(12); standard; MUTATION; SH2_1
Accession       A0347
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0145
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_T73I(13); standard; MUTATION; SH2_1
Accession       A0348
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan
RefTitle        syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0146
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / MPD
//
ID              PTPN11_T73I(14); standard; MUTATION; SH2_1
Accession       A0349
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan
RefTitle        syndrome/myeloproliferative disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0147
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome / MPD
//
ID              PTPN11_T73I(15); standard; MUTATION; SH2_1
Accession       A0350
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Original code   31
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17910045
RefAuthors      Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F., 
RefAuthors      Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A., 
RefAuthors      Fioretos, T., Johansson, B.
RefTitle        Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and 
RefTitle        possibly mutually exclusive in high hyperdiploid childhood 
RefTitle        acute lymphoblastic leukemia.
RefLoc          Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef     PTPN11base; A0236
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia
Age             3
Sex             XY
//
ID              PTPN11_T73I(16); standard; MUTATION; SH2_1
Accession       A0351
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Original code   66
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17910045
RefAuthors      Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F., 
RefAuthors      Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A., 
RefAuthors      Fioretos, T., Johansson, B.
RefTitle        Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and 
RefTitle        possibly mutually exclusive in high hyperdiploid childhood 
RefTitle        acute lymphoblastic leukemia.
RefLoc          Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef     PTPN11base; A0239
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia
Age             7
Sex             XX
//
ID              PTPN11_T73I(17); standard; MUTATION; SH2_1
Accession       A0352
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Original code   449
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0243
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32667
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature           /change: T -> I
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             60
Sex             XY
//
ID              PTPN11_E76A(1); standard; MUTATION; SH2_1
Accession       A0353
Systematic name g.32676A>C, c.227A>C, r.227a>c, p.Glu76Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0150
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> A
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76A(2); standard; MUTATION; SH2_1
Accession       A0354
Systematic name g.32676A>C, c.227A>C, r.227a>c, p.Glu76Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0151
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> A
Feature           /domain: SH2_1
Diagnosis       MDS
//
ID              PTPN11_E76A(3); standard; MUTATION; SH2_1
Accession       A0355
Systematic name g.32676A>C, c.227A>C, r.227a>c, p.Glu76Ala
Original code   70
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17330262
RefAuthors      Christiansen, D. H., Desta, F., Andersen, M. K., Pedersen-
RefAuthors      Bjergaard, J.
RefTitle        Mutations of the PTPN11 gene in therapy-related MDS and 
RefTitle        AML with rare balanced chromosome translocations.
RefLoc          Genes Chromosomes Cancer:517-521 (2007)
DB CrossRef     PTPN11base; A0223
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> A
Feature           /domain: SH2_1
Diagnosis       MDS/AML
Age             60
Sex             XY
Comment         Primary tumor: Lung cancer, undifferentiated
//
ID              PTPN11_E76D(1); standard; MUTATION; SH2_1
Accession       A0356
Systematic name g.32677G>C, c.228G>C, r.228g>c, p.Glu76Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0152
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32677
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 608
Feature           /codon: gag -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_E76D(2); standard; MUTATION; SH2_1
Accession       A0357
Systematic name g.32677G>C, c.228G>C, r.228g>c, p.Glu76Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11704759
RefAuthors      Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., 
RefAuthors      Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. 
RefAuthors      H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A., 
RefAuthors      Kucherlapati, R. S., Gelb, B. D.
RefTitle        Mutations in PTPN11, encoding the protein tyrosine 
RefTitle        phosphatase SHP-2, cause noonan syndrome.
RefLoc          Nat Genet:465-468 (2001)
DB CrossRef     PTPN11base; A0153
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32677
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 608
Feature           /codon: gag -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_E76D(3); standard; MUTATION; SH2_1
Accession       A0358
Systematic name g.32677G>T, c.228G>T, r.228g>u, p.Glu76Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)
DB CrossRef     PTPN11base; A0154
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32677
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 608
Feature           /codon: gag -> gat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_E76D(4); standard; MUTATION; SH2_1
Accession       A0359
Systematic name g.32677G>T, c.228G>T, r.228g>u, p.Glu76Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0155
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32677
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 608
Feature           /codon: gag -> gat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> D
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_E76G(1); standard; MUTATION; SH2_1
Accession       A0360
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0156
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Acute lymphoclastic leukemia - common  
//
ID              PTPN11_E76G(2); standard; MUTATION; SH2_1
Accession       A0361
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0157
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Acute lymphoclastic leukemia - Bi-lineage
//
ID              PTPN11_E76G(3); standard; MUTATION; SH2_1
Accession       A0362
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0158
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(4); standard; MUTATION; SH2_1
Accession       A0363
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0159
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(5); standard; MUTATION; SH2_1
Accession       A0364
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0160
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(6); standard; MUTATION; SH2_1
Accession       A0365
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0161
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(7); standard; MUTATION; SH2_1
Accession       A0366
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0162
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(8); standard; MUTATION; SH2_1
Accession       A0367
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0163
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(9); standard; MUTATION; SH2_1
Accession       A0368
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0164
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(10); standard; MUTATION; SH2_1
Accession       A0369
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0165
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(11); standard; MUTATION; SH2_1
Accession       A0370
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0166
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(12); standard; MUTATION; SH2_1
Accession       A0371
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0167
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76G(13); standard; MUTATION; SH2_1
Accession       A0372
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Original code   735
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0250
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> G
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             64
Sex             XY
//
ID              PTPN11_E76K(1); standard; MUTATION; SH2_1
Accession       A0373
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0168
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common
//
ID              PTPN11_E76K(2); standard; MUTATION; SH2_1
Accession       A0374
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0169
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute lymphoclastic leukemia - common
//
ID              PTPN11_E76K(3); standard; MUTATION; SH2_1
Accession       A0375
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0170
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute lymphoclastic leukemia - common
//
ID              PTPN11_E76K(4); standard; MUTATION; SH2_1
Accession       A0376
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0171
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute lymphoclastic leukemia - Pre-B
//
ID              PTPN11_E76K(5); standard; MUTATION; SH2_1
Accession       A0377
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0172
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute monocytic leukemia
//
ID              PTPN11_E76K(6); standard; MUTATION; SH2_1
Accession       A0378
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0173
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(7); standard; MUTATION; SH2_1
Accession       A0379
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0174
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(8); standard; MUTATION; SH2_1
Accession       A0380
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0175
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(9); standard; MUTATION; SH2_1
Accession       A0381
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0176
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(10); standard; MUTATION; SH2_1
Accession       A0382
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0177
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(11); standard; MUTATION; SH2_1
Accession       A0383
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0178
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(12); standard; MUTATION; SH2_1
Accession       A0384
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0179
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(13); standard; MUTATION; SH2_1
Accession       A0385
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0180
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(14); standard; MUTATION; SH2_1
Accession       A0386
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0181
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(15); standard; MUTATION; SH2_1
Accession       A0387
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0182
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(16); standard; MUTATION; SH2_1
Accession       A0388
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0183
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(17); standard; MUTATION; SH2_1
Accession       A0389
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0184
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(18); standard; MUTATION; SH2_1
Accession       A0390
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0185
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(19); standard; MUTATION; SH2_1
Accession       A0391
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0186
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(20); standard; MUTATION; SH2_1
Accession       A0392
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0187
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(21); standard; MUTATION; SH2_1
Accession       A0393
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0188
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(22); standard; MUTATION; SH2_1
Accession       A0394
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0189
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(23); standard; MUTATION; SH2_1
Accession       A0395
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0190
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(24); standard; MUTATION; SH2_1
Accession       A0396
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0191
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(25); standard; MUTATION; SH2_1
Accession       A0397
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0192
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(26); standard; MUTATION; SH2_1
Accession       A0398
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0193
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(27); standard; MUTATION; SH2_1
Accession       A0399
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0194
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(28); standard; MUTATION; SH2_1
Accession       A0400
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0195
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(29); standard; MUTATION; SH2_1
Accession       A0401
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0196
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(30); standard; MUTATION; SH2_1
Accession       A0402
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0197
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(31); standard; MUTATION; SH2_1
Accession       A0403
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0198
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(32); standard; MUTATION; SH2_1
Accession       A0404
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0199
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(33); standard; MUTATION; SH2_1
Accession       A0405
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15928039
RefAuthors      Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, 
RefAuthors      M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos, 
RefAuthors      G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, 
RefAuthors      M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle        The mutational spectrum of PTPN11 in juvenile 
RefTitle        myelomonocytic leukemia and noonan syndrome/myeloproliferative 
RefTitle        disease.
RefLoc          Blood:2183-2185 (2005)
DB CrossRef     PTPN11base; A0200
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76K(34); standard; MUTATION; SH2_1
Accession       A0406
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16533526
RefAuthors      Yamamoto, T., Isomura, M., Xu, Y., Liang, J., Yagasaki, 
RefAuthors      H., Kamachi, Y., Kudo, K., Kiyoi, H., Naoe, T., Kojma, S.
RefTitle        PTPN11, RAS and FLT3 mutations in childhood acute 
RefTitle        lymphoblastic leukemia.
RefLoc          Leuk Res:1085-1089 (2006)
DB CrossRef     PTPN11base; A0201
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia (ALL)
//
ID              PTPN11_E76K(35); standard; MUTATION; SH2_1
Accession       A0407
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Original code   D119
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17353900
RefAuthors      Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G., 
RefAuthors      Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J. 
RefAuthors      R., Niemeyer, C. M.
RefTitle        Genome-wide single-nucleotide polymorphism analysis in 
RefTitle        juvenile myelomonocytic leukemia identifies uniparental 
RefTitle        disomy surrounding the NF1 locus in cases associated with 
RefTitle        neurofibromatosis but not in cases with mutant RAS or 
RefTitle        PTPN11.
RefLoc          Oncogene:5816-5821 (2007)
DB CrossRef     PTPN11base; A0226
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
Age             1.8
Sex             XX
//
ID              PTPN11_E76K(36); standard; MUTATION; SH2_1
Accession       A0408
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Original code   696
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0245
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             78
Sex             XY
//
ID              PTPN11_E76K(37); standard; MUTATION; SH2_1
Accession       A0409
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Original code   702
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0246
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             47
Sex             XY
//
ID              PTPN11_E76K(38); standard; MUTATION; SH2_1
Accession       A0410
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            19-Feb-2008 (Rel. 1, Created)
Date            19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16598312
RefAuthors      Chen, C. Y., Lin, L. I., Tang, J. L., Tsay, W., Chang, H. 
RefAuthors      H., Yeh, Y. C., Huang, C. F., Chiou, R. J., Yao, M., Ko, 
RefAuthors      B. S., Chen, Y. C., Lin, K. H., Lin, D. T., Tien, H. F.
RefTitle        Acquisition of JAK2, PTPN11, and RAS mutations during 
RefTitle        disease progression in primary myelodysplastic syndrome.
RefLoc          Leukemia:1155-1158 (2006)
DB CrossRef     PTPN11base; A0252
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> K
Feature           /domain: SH2_1
Diagnosis       Myelodysplastic syndrome
//
ID              PTPN11_E76Q(1); standard; MUTATION; SH2_1
Accession       A0411
Systematic name g.32675G>C, c.226G>C, r.226g>c, p.Glu76Gln
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0202
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> Q
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common   
//
ID              PTPN11_E76Q(2); standard; MUTATION; SH2_1
Accession       A0412
Systematic name g.32675G>C, c.226G>C, r.226g>c, p.Glu76Gln
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14982869
RefAuthors      Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, 
RefAuthors      V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C., 
RefAuthors      Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini, 
RefAuthors      M., Gelb, B. D., Biondi, A.
RefTitle        Genetic evidence for lineage-related and differentiation 
RefTitle        stage-related contribution of somatic PTPN11 mutations to 
RefTitle        leukemogenesis in childhood acute leukemia.
RefLoc          Blood 104:307-313 (2004)
DB CrossRef     PTPN11base; A0203
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> Q
Feature           /domain: SH2_1
Diagnosis       Acute lymphoblastic leukemia - common   
//
ID              PTPN11_E76Q(3); standard; MUTATION; SH2_1
Accession       A0413
Systematic name g.32675G>C, c.226G>C, r.226g>c, p.Glu76Gln
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0204
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> Q
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E76Q(4); standard; MUTATION; SH2_1
Accession       A0414
Systematic name g.32675G>C, c.226G>C, r.226g>c, p.Glu76Gln
Original code   815
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            20-Feb-2008 (Rel. 1, Created)
Date            20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17972951
RefAuthors      Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J. 
RefAuthors      L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y., 
RefAuthors      Liu, M. C., Tien, H. F.
RefTitle        Characterization of acute myeloid leukemia with PTPN11 
RefTitle        mutation: the mutation is closely associated with NPM1 
RefTitle        mutation but inversely related to FLT3/ITD.
RefLoc          Leukemia (2007)
DB CrossRef     PTPN11base; A0253
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32675
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature           /codon: gag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> Q
Feature           /domain: SH2_1
Diagnosis       Acute myeloid leukemia
Age             75
Sex             XX
Comment         In the original publication, it is stated that the c.G226C
Comment         mutation would lead into E76G at the protein level. We
Comment         assume this was a typo, since c. G226C actually causes
Comment         E76Q. This patient has also a L74M mutation (c. T220A).
//
ID              PTPN11_E76V(1); standard; MUTATION; SH2_1
Accession       A0415
Systematic name g.32676A>T, c.227A>T, r.227a>u, p.Glu76Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12717436
RefAuthors      Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X., 
RefAuthors      Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J. 
RefAuthors      D., Gelb, B. D.
RefTitle        Somatic mutations in PTPN11 in juvenile myelomonocytic 
RefTitle        leukemia, myelodysplastic syndromes and acute myeloid 
RefTitle        leukemia.
RefLoc          Nat Genet:148-150 (2003)
DB CrossRef     PTPN11base; A0205
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32676
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature           /codon: gag -> gtg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature           /change: E -> V
Feature           /domain: SH2_1
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_Q79P(1); standard; MUTATION; SH2_1
Accession       A0416
Systematic name g.32685A>C, c.236A>C, r.236a>c, p.Gln79Pro
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12960218
RefAuthors      Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C., 
RefAuthors      Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V., 
RefAuthors      Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle        Correlation between PTPN11 gene mutations and congenital 
RefTitle        heart defects in noonan and LEOPARD syndromes.
RefLoc          J Med Genet 40:704-708 (2003)
DB CrossRef     PTPN11base; A0206
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> P
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Comment         Symptoms: pulmonary valve stenosis
//
ID              PTPN11_Q79P(2); standard; MUTATION; SH2_1
Accession       A0417
Systematic name g.32685A>C, c.236A>C, r.236a>c, p.Gln79Pro
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12960218
RefAuthors      Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C., 
RefAuthors      Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V., 
RefAuthors      Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle        Correlation between PTPN11 gene mutations and congenital 
RefTitle        heart defects in noonan and LEOPARD syndromes.
RefLoc          J Med Genet 40:704-708 (2003)
DB CrossRef     PTPN11base; A0207
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> P
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
Comment         Symptoms: pulmonary valve stenosis
//
ID              PTPN11_Q79R(1); standard; MUTATION; SH2_1
Accession       A0418
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0208
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(2); standard; MUTATION; SH2_1
Accession       A0419
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0209
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(3); standard; MUTATION; SH2_1
Accession       A0420
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0210
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(4); standard; MUTATION; SH2_1
Accession       A0421
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0211
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(5); standard; MUTATION; SH2_1
Accession       A0422
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0212
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(6); standard; MUTATION; SH2_1
Accession       A0423
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11704759
RefAuthors      Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., 
RefAuthors      Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. 
RefAuthors      H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A., 
RefAuthors      Kucherlapati, R. S., Gelb, B. D.
RefTitle        Mutations in PTPN11, encoding the protein tyrosine 
RefTitle        phosphatase SHP-2, cause noonan syndrome.
RefLoc          Nat Genet:465-468 (2001)
DB CrossRef     PTPN11base; A0213
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(7); standard; MUTATION; SH2_1
Accession       A0424
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11704759
RefAuthors      Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., 
RefAuthors      Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. 
RefAuthors      H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A., 
RefAuthors      Kucherlapati, R. S., Gelb, B. D.
RefTitle        Mutations in PTPN11, encoding the protein tyrosine 
RefTitle        phosphatase SHP-2, cause noonan syndrome.
RefLoc          Nat Genet:465-468 (2001)
DB CrossRef     PTPN11base; A0214
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(8); standard; MUTATION; SH2_1
Accession       A0425
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12634870
RefAuthors      Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., 
RefAuthors      Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D., 
RefAuthors      Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H. 
RefAuthors      H., Kalscheuer, V. M.
RefTitle        Spectrum of mutations in PTPN11 and genotype-phenotype 
RefTitle        correlation in 96 patients with noonan syndrome and five 
RefTitle        patients with cardio-facio-cutaneous syndrome.
RefLoc          Eur J Hum Genet:201-206 (2003)
DB CrossRef     PTPN11base; A0215
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(9); standard; MUTATION; SH2_1
Accession       A0426
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12529711
RefAuthors      Schollen, E., Matthijs, G., Gewillig, M., Fryns, J. P., 
RefAuthors      Legius, E.
RefTitle        PTPN11 mutation in a large family with noonan syndrome and 
RefTitle        dizygous twinning.
RefLoc          Eur J Hum Genet:85-88 (2003)
DB CrossRef     PTPN11base; A0216
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(10); standard; MUTATION; SH2_1
Accession       A0427
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0217
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_Q79R(11); standard; MUTATION; SH2_1
Accession       A0428
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the SH2_1 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15001945
RefAuthors      Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, 
RefAuthors      K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M., 
RefAuthors      Singer, H., Reis, A., Rauch, A.
RefTitle        Genotype-phenotype correlations in noonan syndrome.
RefLoc          J Pediatr:368-374 (2004)
DB CrossRef     PTPN11base; A0218
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 32685
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature           /change: Q -> R
Feature           /domain: SH2_1
Diagnosis       Noonan syndrome
//
ID              PTPN11_E139D(1); standard; MUTATION; SH2_2
Accession       A0429
Systematic name g.35548G>C, c.417G>C, r.417g>c, p.Glu139Asp
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the SH2_2 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0219
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 35548
Feature           /change: g -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 797
Feature           /codon: gag -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 139
Feature           /change: E -> D
Feature           /domain: SH2_2
Diagnosis       Noonan syndrome
//
ID              PTPN11_E139D(2); standard; MUTATION; SH2_2
Accession       A0430
Systematic name g.35548G>T, c.417G>T, r.417g>u, p.Glu139Asp
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the SH2_2 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11992261
RefAuthors      Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. 
RefAuthors      L., van der Burgt, I., Brunner, H. G., Bertola, D. R., 
RefAuthors      Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., 
RefAuthors      Patton, M. A., Gelb, B. D.
RefTitle        PTPN11 mutations in noonan syndrome: molecular spectrum, 
RefTitle        genotype-phenotype correlation, and phenotypic 
RefTitle        heterogeneity.
RefLoc          Am J Hum Genet:1555-1563 (2002)
DB CrossRef     PTPN11base; A0220
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 35548
Feature           /change: g -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 797
Feature           /codon: gag -> gat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 139
Feature           /change: E -> D
Feature           /domain: SH2_2
Diagnosis       Noonan syndrome
//
ID              PTPN11_E139D(3); standard; MUTATION; SH2_2
Accession       A0431
Systematic name g.35548G>C, c.417G>C, r.417g>c, p.Glu139Asp
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the SH2_2 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14644997
RefAuthors      Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G., 
RefAuthors      Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M., 
RefAuthors      Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J., 
RefAuthors      Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K. 
RefAuthors      M.
RefTitle        Mutations in PTPN11 implicate the SHP-2 phosphatase in 
RefTitle        leukemogenesis.
RefLoc          Blood:2325-2331 (2004)
DB CrossRef     PTPN11base; A0221
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 35548
Feature           /change: g -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 797
Feature           /codon: gag -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 139
Feature           /change: E -> D
Feature           /domain: SH2_2
Diagnosis       Juvenile myelomonocytic leukemia
//
ID              PTPN11_E139D(4); standard; MUTATION; SH2_2
Accession       A0432
Systematic name p.Glu139Asp
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the SH2_2 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17361219
RefAuthors      Karow, A., Steinemann, D., Gohring, G., Hasle, H., 
RefAuthors      Greiner, J., Harila-Saari, A., Flotho, C., Zenker, M., 
RefAuthors      Schlegelberger, B., Niemeyer, C. M., Kratz, C. P.
RefTitle        Clonal duplication of a germline PTPN11 mutation due to 
RefTitle        acquired uniparental disomy in acute lymphoblastic 
RefTitle        leukemia blasts from a patient with noonan syndrome.
RefLoc          Leukemia:1303-1305 (2007)
DB CrossRef     PTPN11base; A0232
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: unknown
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 139
Feature           /change: E -> D
Feature           /domain: SH2_2
Diagnosis       Noonan syndrome
//
ID              PTPN11_R152H(1); standard; MUTATION; SH2_2
Accession       A0433
Systematic name g.35586G>A, c.455G>A, r.455g>a, p.Arg152His
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the SH2_2 domain
Date            18-Feb-2008 (Rel. 1, Created)
Date            18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16518851
RefAuthors      Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada, 
RefAuthors      R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M., 
RefAuthors      Shimada, A., Hayashi, Y.
RefTitle        Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma 
RefTitle        and pediatric hematological malignancies.
RefLoc          Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef     PTPN11base; A0222
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PTPN11_DNA: 35586
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 835
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q06124-2; PTN11_HUMAN: 152
Feature           /change: R -> H
Feature           /domain: SH2_2
Diagnosis       Acute lymphoblastic leukemia (ALL)
//
ID              RASA1_R398L(1); standard; MUTATION; SH2_2
Accession       A0434
Systematic name g.82417G>T, c.1193G>T, r.1193g>u, p.Arg398Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the SH2_2 domain
Date            20-Feb-2008 (Rel. 1, Created)
Date            20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8275088
RefAuthors      Friedman, E., Gejman, P. V., Martin, G. A., McCormick, F.
RefTitle        Nonsense mutations in the C-terminal SH2 region of the 
RefTitle        GTPase activating protein (GAP) gene in human tumours.
RefLoc          Nat Genet:242-247 (1993)
DB CrossRef     RASA1base; A0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: RASA1_DNA: 82417
Feature           /change: g -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23379; GI:182971; M23379: 1311
Feature           /codon: cga -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P20936; RASA1_HUMAN: 398
Feature           /change: R -> L
Feature           /domain: SH2_2
Diagnosis       Basal cell carcinoma
//
ID              RASA1_K400E(1); standard; MUTATION; SH2_2
Accession       A0435
Systematic name g.82422A>G, c.1198A>G, r.1198a>g, p.Lys400Glu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the SH2_2 domain
Date            20-Feb-2008 (Rel. 1, Created)
Date            20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8275088
RefAuthors      Friedman, E., Gejman, P. V., Martin, G. A., McCormick, F.
RefTitle        Nonsense mutations in the C-terminal SH2 region of the 
RefTitle        GTPase activating protein (GAP) gene in human tumours.
RefLoc          Nat Genet:242-247 (1993)
DB CrossRef     RASA1base; A0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: RASA1_DNA: 82422
Feature           /change: a -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23379; GI:182971; M23379: 1316
Feature           /codon: aaa -> gaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P20936; RASA1_HUMAN: 400
Feature           /change: K -> E
Feature           /domain: SH2_2
Diagnosis       Basal cell carcinoma
//
ID              RASA1_I401V(1); standard; MUTATION; SH2_2
Accession       A0436
Systematic name g.82425A>G, c.1201A>G, r.1201a>g, p.Ile401Val
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the SH2_2 domain
Date            20-Feb-2008 (Rel. 1, Created)
Date            20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8275088
RefAuthors      Friedman, E., Gejman, P. V., Martin, G. A., McCormick, F.
RefTitle        Nonsense mutations in the C-terminal SH2 region of the 
RefTitle        GTPase activating protein (GAP) gene in human tumours.
RefLoc          Nat Genet:242-247 (1993)
DB CrossRef     RASA1base; A0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: RASA1_DNA: 82425
Feature           /change: a -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23379; GI:182971; M23379: 1319
Feature           /codon: ata -> gta; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P20936; RASA1_HUMAN: 401
Feature           /change: I -> V
Feature           /domain: SH2_2
Diagnosis       Basal cell carcinoma
//
ID              SH2D1A_#M1X21(1a); standard; MUTATION; SH2
Accession       A0437
Description     Frameshift deletion in the exon 1
Date            11-Jan-2000 (Rel. 1, Created)
Date            11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10556288
RefAuthors      Brandau, O., Schuster, V., Weiss, M., Hellebrand, H., 
RefAuthors      Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B., 
RefAuthors      Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle        Epstein-barr virus-negative boys with non-hodgkin 
RefTitle        lymphoma are mutated in the SH2D1A gene, as are patients 
RefTitle        with  X-linked lymphoproliferative disease (XLP) 
RefLoc          Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef     SH2D1Abase; A0036
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0078: 39321..39501
Feature           /change: -atggacgcag tggctgtgta tcatggcaaa atcagcaggg 
Feature           /change:  aaaccggcga gaagctcctg cttgccactg ggctggatgg 
Feature           /change:  cagctatttg ctgagggaca gcgagagcgt gccaggcgtg 
Feature           /change:  tactgcctat gtgtgctgta tcacggttac atttatacat 
Feature           /change:  accgagtgtc ccagacagaa a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0078: 300..480
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O60880; SH21A_HUMAN: 1..61
Feature           /change:    MDAVAVYHGK ISRETGEKLL LATGLDGSYF LRDSESVPGV 
Feature           /change:    YCLCVLYHGY IYTYRVSQTE T 
Feature           /change: -> QVLGVLRQHL GYIKDISGKX 
Symptoms        Classical XLP
Protein struct  Large deletion
Sex             XY 
Family history  Inherited
Relative        SH2D1A; A0037 brother
Comment         -!-Symptoms: anemia, NHL lymphoma, im remission, age 15
//
ID              SH2D1A_#M1X21(1b); standard; MUTATION; SH2
Accession       A0438
Description     Frameshift deletion in the exon 1
Date            11-Jan-2000 (Rel. 1, Created)
Date            11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10556288
RefAuthors      Brandau, O., Schuster, V., Weiss, M., Hellebrand, H., 
RefAuthors      Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B., 
RefAuthors      Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle        Epstein-barr virus-negative boys with non-hodgkin 
RefTitle        lymphoma are mutated in the SH2D1A gene, as are patients 
RefTitle        with  X-linked lymphoproliferative disease (XLP) 
RefLoc          Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef     SH2D1Abase; A0037
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0078: 39321..39501
Feature           /change: -atggacgcag tggctgtgta tcatggcaaa atcagcaggg 
Feature           /change:  aaaccggcga gaagctcctg cttgccactg ggctggatgg 
Feature           /change:  cagctatttg ctgagggaca gcgagagcgt gccaggcgtg 
Feature           /change:  tactgcctat gtgtgctgta tcacggttac atttatacat 
Feature           /change:  accgagtgtc ccagacagaa a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0078: 300..480
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O60880; SH21A_HUMAN: 1..61
Feature           /change:    MDAVAVYHGK ISRETGEKLL LATGLDGSYF LRDSESVPGV 
Feature           /change:    YCLCVLYHGY IYTYRVSQTE T 
Feature           /change: -> QVLGVLRQHL GYIKDISGKX 
Symptoms        Classical XLP
Protein struct  Large deletion
Sex             XY 
Family history  Inherited
Relative        SH2D1A; A0036 brother
Comment         -!-Symptoms: anemia, NHL lymphoma, im remission, age 10
//
ID              SH2D1A_Y7C(1); standard; MUTATION; SH2
Accession       A0439
Description     Missense mutation in the exon 1
Date            09-Jul-2001 (Rel. 2, Created)
Date            09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11049992
RefAuthors      Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer, 
RefAuthors      T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H., 
RefAuthors      Purtilo, D. T. and Gross, T. G.
RefTitle        Correlation of mutations of the SH2D1A gene and 
RefTitle        Epstein-Bar virus infection with clinical phenotype and 
RefTitle        outcome in X-linked lymphoproliferative 
RefTitle        disease
RefLoc          Blood 96:3118-4125 (2000)
DB CrossRef     SH2D1Abase; A0049
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0078: 39340
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0078: 319
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O60880; SH21A_HUMAN: 7
Feature           /change: Y -> C
Symptoms        Classical XLP
Sex             XY
Family history  Inherited
Comment         -!-Family history: 2 other affected males in the K046 
Comment         -!-Family history: family; ref [1]
Comment         -!-Symptoms: fulminant infectious mononucleosis, 
Comment         -!-Symptoms: aplastic anemia
//
ID              SH2D1A_H8D(1); standard; MUTATION; SH2
Accession       A0440
Original code   9
Description     Missense mutation in the exon 1
Date            03-Oct-2001 (Rel. 2, Created)
Date            03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11493483
RefAuthors      Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T., 
RefAuthors      Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H., 
RefAuthors      Matsui, A., Miyawaki, T.
RefTitle        SH2D1A mutations in Japanese males with severe 
RefTitle        Epstain-Barr virus-associated illnesses
RefLoc          Blood 98:1268-1270 (2001)
DB CrossRef     SH2D1Abase; A0088
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0078: 39342
Feature           /change: c -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0078: 321
Feature           /codon: cat -> gat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O60880; SH21A_HUMAN: 8
Feature           /change: H -> D
Symptoms        Classical XLP 
Sex             XY 
Family history  Inherited
Ethnic origin   Japanese
Comment         -!-Family history: one brother with 
Comment         -!-Family history: hypogammaglobulinemia
Comment         -!-Clinical history: stable at 17 years old 
Comment         -!-Clinical history: under intravenous immunoglobulins
Comment         -!-Symptoms: fulminant infectious mononucleosis,
Comment         -!-Symptoms: hypogammaglobulinemia
//
ID              SH2D1A_H8P(1); standard; MUTATION; SH2
Accession       A0441
Systematic name g.39343A>C, c.23A>C, r.23a>c, p.His8Pro
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the SH2 domain
Date            02-Mar-2007 (Rel. 1, Created)
Date            02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16328363
RefAuthors      Alangari, A., Abobaker, A., Kanegane, H., Miyawaki, T.
RefTitle        X-linked lymphoproliferative disease associated with 
RefTitle        hypogammaglobulinemia and growth-hormone deficiency.
RefLoc          Eur J Pediatr:165-167 (2006)
DB CrossRef     SH2D1Abase; A0110
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0078: 39343
Feature           /change: a -> c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AL023657; GI:312466; HSATK: 322
Feature           /codon: cat -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: SH21A_HUMAN: 8
Feature           /change: H -> P
Feature           /domain: SH2
Protein level   Reduced
Diagnosis       X-linked lymphoproliferative syndrome
Symptoms        recurrent infections, growth failure,
Symptoms        hypogammaglobulinemia, lymphoma, EBV infection
Age             7
Sex             XY
Ethnic origin   Saudi Arabia
IgA             0.00g/l
IgG             0.29g/l
IgM             0.13g/l
Comment         Significantly low growth hormone levels. Patient underwent
Comment         a bone-marrow transplant from an HLA-identical sister. Died
Comment         of post-transplant complications a few months later at the
Comment         age of 7. Relatives: Parents distant relatives. Three
Comment         sisters and four brothers all healthy.
//
ID              SH2D1A_G16D(1a); standard; MUTATION; SH2
Accession       A0442
Systematic name g.39367G>A, c.47G>A, r.47g>a, p.Gly16Asp
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the SH2 domain
Date            02-Mar-2007 (Rel. 1, Created)
Date            02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15841490
RefAuthors      Erdös, M., Uzvolgyi, E., Nemes, Z., Torok, O., Rakoczi, 
RefAuthors      E., Went-Sumegi, N., Sumegi, J., Marodi, L.
RefTitle        Characterization of a new disease-causing mutation of 
RefTitle        SH2D1A in a family with X-linked lymphoproliferative 
RefTitle        disease.
RefLoc          Hum Mutat:506 (2005)
DB CrossRef     SH2D1Abase; A0111
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0078: 39367
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AL023657; GI:312466; HSATK: 346
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: SH21A_HUMAN: 16
Feature           /change: G -> D
Feature           /domain: SH2
Diagnosis       X-linked lymphoproliferative syndrome
Symptoms        pharyngitis, hepatosplenomegaly, maculopapular exanthemas,
Symptoms        generalized lymphadenopathy, hepatic failure, respiratory
Symptoms        arrest, EBV infection
Age             <1
Sex             XY
Ethnic origin   Hungary
Family history  Inherited
Relative        SH2D1Abase; A0112 maternal uncle
Comment         Mutant protein half-life was comparable to the WT protein.
Comment         The mutated protein was not able to associate with SLAM or
Comment         2B4. Patient died at the age of 8 months.
//
ID              SH2D1A_G16D(1b); standard; MUTATION; SH2
Accession       A0443
Systematic name g.39367G>A, c.47G>A, r.47g>a, p.Gly16Asp
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the SH2 domain
Date            02-Mar-2007 (Rel. 1, Created)
Date            02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15841490
RefAuthors      Erdös, M., Uzvolgyi, E., Nemes, Z., Torok, O., Rakoczi, 
RefAuthors      E., Went-Sumegi, N., Sumegi, J., Marodi, L.
RefTitle        Characterization of a new disease-causing mutation of 
RefTitle        SH2D1A in a family with X-linked lymphoproliferative 
RefTitle        disease.
RefLoc          Hum Mutat:506 (2005)
DB CrossRef     SH2D1Abase; A0112
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0078: 39367
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AL023657; GI:312466; HSATK: 346
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: SH21A_HUMAN: 16
Feature           /change: G -> D
Feature           /domain: SH2
Diagnosis       X-linked lymphoproliferative syndrome
Symptoms        pharyngitis, hepatosplenomegaly, lymphadenopathy,
Symptoms        respiratory distress, jaundice, lethargy, hepatic failure,
Symptoms        cerebral edema, cerebellar herniation, EBV infection
Sex             XY
Ethnic origin   Hungary
Family history  Inherited
Relative        SH2D1Abase; A0111 nephew
Comment         Mutation analysis in the patient was not applicable, but
Comment         based on the clinical phenotype, the histological findings
Comment         and the pedigree it is proposed that the patient had the
Comment         same mutation as his nephew did. The patient died at the
Comment         age of 9.
//
ID              SH2D1A_G27S(1); standard; MUTATION; SH2
Accession       A0444
Original code   8
Description     Missense mutation in the exon 1
Date            03-Oct-2001 (Rel. 2, Created)
Date            03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11493483
RefAuthors      Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T., 
RefAuthors      Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H., 
RefAuthors      Matsui, A., Miyawaki, T.
RefTitle        SH2D1A mutations in Japanese males with severe 
RefTitle        Epstain-Barr virus-associated illnesses
RefLoc          Blood 98:1268-1270 (2001)
DB CrossRef     SH2D1Abase; A0089
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0078: 39399
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0078: 378
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O60880; SH21A_HUMAN: 27
Feature           /change: G -> S
Symptoms        Classical XLP
Family history  Sporadic
Ethnic origin   Japanese
Comment         -!-Clinical history: died after 1 month
Comment         -!-Symptoms: fulminant infectious mononucleosis
//
ID              SH2D1A_S28R(1); standard; MUTATION; SH2
Accession       A0445
Description     Missense mutation in the exon 1
Date            09-Jul-2001 (Rel. 2, Created)

Date            09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11049992
RefAuthors      Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer, 
RefAuthors      T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H., 
RefAuthors      Purtilo, D. T. and Gross, T. G.
RefTitle        Correlation of mutations of the SH2D1A gene and 
RefTitle        Epstein-Bar virus infection with clinical phenotype and 
RefTitle        outcome in X-linked lymphoproliferative 
RefTitle        disease
RefLoc          Blood 96:3118-4125 (2000)
DB CrossRef     SH2D1Abase; A0050
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0078: 39404
Feature           /change: c -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0078: 383
Feature           /codon: agc -> agg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O60880; SH21A_HUMAN: 28
Feature           /change: S -> R
Symptoms        Classical XLP
Sex             XY
Family history  Inherited
Comment         -!-Family history: 5 other affected males in the K068
Comment         -!-Family history: family; ref [1]
Comment         -!-Symptoms: lymphoproliferative disorders, 
Comment         -!-Symptoms: dysgammaglobulinemia
//
ID              SH2D1A_L31P(1); standard; MUTATION; SH2
Accession       A0446
Description     Missense mutation in the exon 1
Date            09-Jul-2001 (Rel. 2, Created)
Date            09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11049992
RefAuthors      Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer, 
RefAuthors      T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H., 
RefAuthors      Purtilo, D. T. and Gross, T. G.
RefTitle        Correlation of mutations of the SH2D1A gene and 
RefTitle        Epstein-Bar virus infection with clinical phenotype and 
RefTitle        outcome in X-linked lymphoproliferative 
RefTitle        disease
RefLoc          Blood 96:3118-4125 (2000)
DB CrossRef     SH2D1Abase; A0051
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0078: 39412
Feature           /change: t -> c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0078: 391
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O60880; SH21A_HUMAN: 31
Feature           /change: L -> P
Symptoms        Classical XLP
Sex             XY
Family history  Inherited
Comment         -!-Family history: 2 other affected males in the K089 
Comment         -!-Family history: family; ref [1]
Comment         -!-Symptoms: malignant lymphoma
//
ID              SH2D1A_R32T(1); standard; MUTATION; SH2
Accession       A0447
Original code   4
Description     Missense mutation in the exon 1 leading to amino acid
Description     change in SH2 domain 
Date            10-Jun-1999 (Rel. 1, Created) 
Date            10-Jun-1999 (Rel. 1, Last updated, Version 1) 
RefNumber       [1] 
RefCrossRef     PUBMED; 9771704
RefAuthors      Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T., 
RefAuthors      Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath, 
RefAuthors      P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M., 
RefAuthors      Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S., 
RefAuthors      Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors      Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A., 
RefAuthors      Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St 
RefAuthors      Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H., 
RefAuthors      Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin, 
RefAuthors      M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle        Host response to EBV infection in X-linked 
RefTitle        lymphoproliferative disease results from mutations in an 
RefTitle        SH2-domain encoding gene
RefLoc          Nature Genetics 20:129-135 (1998)
DB CrossRef     SH2D1Abase; A0013
Feature         dna; 1 
Feature           /rnalink: 2 
Feature           /name: point
Feature           /loc: IDRefSeq: D0078: 39415
Feature           /change: g -> c
Feature           /genomic_region: exon; 1 
Feature         rna; 2 
Feature           /dnalink: 1 
Feature           /aalink: 3 
Feature           /name: missense
Feature           /loc: EMBL: AL023657; GI:3153107; HSDSHP: 394 
Feature           /codon: agg -> acg; 2
Feature         aa; 3 
Feature           /rnalink: 2 
Feature           /name: aa substitution
Feature           /loc: UniProt: O60880; SH21A_HUMAN: 32 
Feature           /change: R -> T 
Feature           /domain: SH2
Symptoms        Classical XLP 
Sex             XY 
Family history