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- databases for immunodeficiency-causing variations

   MAPBPIPbase
   Variation registry for  Endosomal adaptor protein p14 deficiency


Database        MAPBPIPbase
Version         1.0
File            mapbpippub.html
Date            21-Aug-2008
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
URL             http://structure.bmc.lu.se/idbase/MAPBPIPbase/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF161.html
Gene            MAPBPIP
Disease         Endosomal adaptor protein p14 deficiency 
OMIM            610389
Sequence        IDRefSeq:D0123; IDRefSeq:C0123; UniProt:Q9Y2Q5 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry;
//
ID              Downstream(1a),Downstream(1a); standard; MUTATION;
Accession       M0001
Systematic name Allele 1 and 2: g.4581C>A, c.401C>A, r.401c>a, p.134
Original code   #5
Description     Allele 1 and 2: A point mutation in the 3 untranslated
Description     region (UTR) in exon 4 leading to decreased protein
Description     expression
Date            16-Apr-2007 (Rel. 1, Created)
Date            16-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17195838
RefAuthors      Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker, 
RefAuthors      E., Schaffer, A. A., Rathinam, C., Taub, N., Teis, D., 
RefAuthors      Zeidler, C., Dewey, R. A., Geffers, R., Buer, J., Huber, 
RefAuthors      L. A., Welte, K., Grimbacher, B., Klein, C.
RefTitle        A novel human primary immunodeficiency syndrome caused by 
RefTitle        deficiency of the endosomal adaptor protein p14.
RefLoc          Nat Med:38-45 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0123: 4581
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: downstream
Feature           /loc: IDRefSeq: C0123: 477
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: no change
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0123: 4581
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: downstream
Feature           /loc: IDRefSeq: C0123: 477
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Symptoms        short stature, hypopigmented skin, coarse facial features,
Symptoms        and recurrent bronchopulmonary infections by Streptococcus
Symptoms        pneumoniae
Sex             XY
Ethnic origin   Caucasoid
Parents         Consanguineous
Relative        MAPBPIPbase; M0002; sister
Relative        MAPBPIPbase; M0003; brother
Relative        MAPBPIPbase; M0004; sister
//
ID              Downstream(1b),Downstream(1b); standard; MUTATION;
Accession       M0002
Systematic name Allele 1 and 2: g.4581C>A, c.401C>A, r.401c>a, p.134
Original code   #10
Description     Allele 1 and 2: A point mutation in the 3 untranslated
Description     region (UTR) in exon 4 leading to decreased protein
Description     expression
Date            16-Apr-2007 (Rel. 1, Created)
Date            16-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17195838
RefAuthors      Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker, 
RefAuthors      E., Schaffer, A. A., Rathinam, C., Taub, N., Teis, D., 
RefAuthors      Zeidler, C., Dewey, R. A., Geffers, R., Buer, J., Huber, 
RefAuthors      L. A., Welte, K., Grimbacher, B., Klein, C.
RefTitle        A novel human primary immunodeficiency syndrome caused by 
RefTitle        deficiency of the endosomal adaptor protein p14.
RefLoc          Nat Med:38-45 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0123: 4581
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: downstream
Feature           /loc: IDRefSeq: C0123: 477
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: no change
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0123: 4581
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: downstream
Feature           /loc: IDRefSeq: C0123: 477
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Symptoms        short stature, hypopigmented skin, coarse facial features,
Symptoms        and recurrent bronchopulmonary infections by Streptococcus
Symptoms        pneumoniae
Sex             XX
Ethnic origin   Caucasoid
Parents         Consanguineous
Relative        MAPBPIPbase; M0001; brother
Relative        MAPBPIPbase; M0003; brother
Relative        MAPBPIPbase; M0004; sister
//
ID              Downstream(1c),Downstream(1c); standard; MUTATION;
Accession       M0003
Systematic name Allele 1 and 2: g.4581C>A, c.401C>A, r.401c>a, p.134
Original code   #12
Description     Allele 1 and 2: A point mutation in the 3 untranslated
Description     region (UTR) in exon 4 leading to decreased protein
Description     expression
Date            16-Apr-2007 (Rel. 1, Created)
Date            16-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17195838
RefAuthors      Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker, 
RefAuthors      E., Schaffer, A. A., Rathinam, C., Taub, N., Teis, D., 
RefAuthors      Zeidler, C., Dewey, R. A., Geffers, R., Buer, J., Huber, 
RefAuthors      L. A., Welte, K., Grimbacher, B., Klein, C.
RefTitle        A novel human primary immunodeficiency syndrome caused by 
RefTitle        deficiency of the endosomal adaptor protein p14.
RefLoc          Nat Med:38-45 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0123: 4581
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: downstream
Feature           /loc: IDRefSeq: C0123: 477
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: no change
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0123: 4581
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: downstream
Feature           /loc: IDRefSeq: C0123: 477
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Symptoms        short stature, hypopigmented skin, coarse facial features,
Symptoms        and recurrent bronchopulmonary infections by Streptococcus
Symptoms        pneumoniae
Sex             XY
Ethnic origin   Caucasoid
Parents         Consanguineous
Relative        MAPBPIPbase; M0001; brother
Relative        MAPBPIPbase; M0002; sister
Relative        MAPBPIPbase; M0004; sister
//
ID              Downstream(1d),Downstream(1d); standard; MUTATION;
Accession       M0004
Systematic name Allele 1 and 2: g.4581C>A, c.401C>A, r.401c>a, p.134
Original code   #13
Description     Allele 1 and 2: A point mutation in the 3 untranslated
Description     region (UTR) in exon 4 leading to decreased protein
Description     expression
Date            16-Apr-2007 (Rel. 1, Created)
Date            16-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17195838
RefAuthors      Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker, 
RefAuthors      E., Schaffer, A. A., Rathinam, C., Taub, N., Teis, D., 
RefAuthors      Zeidler, C., Dewey, R. A., Geffers, R., Buer, J., Huber, 
RefAuthors      L. A., Welte, K., Grimbacher, B., Klein, C.
RefTitle        A novel human primary immunodeficiency syndrome caused by 
RefTitle        deficiency of the endosomal adaptor protein p14.
RefLoc          Nat Med:38-45 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0123: 4581
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: downstream
Feature           /loc: IDRefSeq: C0123: 477
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: no change
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0123: 4581
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: downstream
Feature           /loc: IDRefSeq: C0123: 477
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Symptoms        short stature, hypopigmented skin, coarse facial features,
Symptoms        and recurrent bronchopulmonary infections by Streptococcus
Symptoms        pneumoniae
Sex             XX
Ethnic origin   Caucasoid
Parents         Consanguineous
Relative        MAPBPIPbase; M0001; brother
Relative        MAPBPIPbase; M0002; sister
Relative        MAPBPIPbase; M0003; brother
//
//