Database IL12RB1base
Version 1.1
File il12rb1pub.txt
Date 16-Jun-2011
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/IL12RB1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF47.html
Gene IL12RB1
Disease Interleukin-12 receptor ß1 deficiency
OMIM 601604
GDB 375777
Sequence IDRefSeq:D0048; IDRefSeq:C0048; UniProt:P42701
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID Q32X(1),Q32X(1); standard; MUTATION; EC,EC
Accession I0001
Systematic name Allele 1 and 2: g.4426C>T, c.94C>T, r.94c>u, p.Gln32X
Original code Patient 1
Description Allele 1 and 2: point mutation in the exon 2 leading to a
Description premature stop codon in the EC domain
Date 30-Sep-2002 (Rel. 1, Created)
Date 30-Sep-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9603733
RefAuthors de Jong, R., Altare, F., Haagen, I. A., Elferink, D. G.,
RefAuthors Boer, T., van Breda Vriesman, P. J., Kabel, P. J.,
RefAuthors Draaisma, J. M., van Dissel, J. T., Kroon, F. P.,
RefAuthors Casanova, J. L., Ottenhoff, T. H.
RefTitle Severe mycobacterial and salmonella infections in
RefTitle interleukin-12 receptor-deficient patients.
RefLoc Science 280:1435-1438 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
Symptoms mild
Sex XX
Ethnic origin Caucasoid; Holland
Parents Non-consanguineous
Relative Description of pedigree:parents heterotsygous
Comment -!-M.avium, S.paratyphi infections
//
ID Q32X(2a),Q542X(2a); standard; MUTATION; EC,EC
Accession I0022
Systematic name Allele 1: g.4426C>T, c.94C>T, r.94c>u, p.Gln32X
Systematic name Allele 2: g.25615_25616delinsTT, c.1623_1624delinsTT,
Systematic name r.1623_1624delinsuu, p.Gln542X
Original code Kindred 17,II.1
Description Allele 1: a point mutation in the exon 2 leading to a
Description premature stop codon in the EC domain
Description Allele 2: a complex mutation in the exon 14 leading to a
Description premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Age 18
Sex XY
Ethnic origin Caucasoid; France
Relative IL12RB1base; I0023 brother
Comment No adverse reaction to BCG vaccination
//
ID Q32X(2b),Q542X(2b); standard; MUTATION; EC,EC
Accession I0023
Systematic name Allele 1: g.4426C>T, c.94C>T, r.94c>u, p.Gln32X
Systematic name Allele 2: g.25615_25616delinsTT, c.1623_1624delinsTT,
Systematic name r.1623_1624delinsuu, p.Gln542X
Original code Kindred 17,II.2
Description Allele 1: a point mutation in the exon 2 leading to a
Description premature stop codon in the EC domain
Description Allele 2: a complex mutation in the exon 14 leading to a
Description premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Mycobacterium genavense, Salmonella enteritidis
Age 13
Sex XY
Ethnic origin Caucasoid; France
Relative IL12RB1base; I0022 brother
Comment not vaccinated with BCG
//
ID Q32X(3),Q32X(3); standard; MUTATION; EC,EC
Accession I0024
Systematic name Allele 1 and 2: g.4426C>T, c.94C>T, r.94c>u, p.Gln32X
Original code Kindred 20,II.1
Description Allele 1 and 2: a point mutation in the exon 2 leading to a
Description premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG
Age 6
Sex XX
Ethnic origin Caucasoid; France
//
ID Q32X(4a),Q32X(4a); standard; MUTATION; EC,EC
Accession I0025
Systematic name Allele 1 and 2: g.4426C>T, c.94C>T, r.94c>u, p.Gln32X
Original code Kindred 21,II.1
Description Allele 1 and 2: a point mutation in the exon 2 leading to a
Description premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Age 16
Sex XX
Ethnic origin Caucasoid; Belgium
Relative IL12RB1base; I0026 sister
Comment not vaccinated with BCG
//
ID Q32X(4b),Q32X(4b); standard; MUTATION; EC,EC
Accession I0026
Systematic name Allele 1 and 2: g.4426C>T, c.94C>T, r.94c>u, p.Gln32X
Original code Kindred 21,II.2
Description Allele 1 and 2: a point mutation in the exon 2 leading to a
Description premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 4426
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 158
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 32
Feature /change: Q -> X
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Age 7
Sex XX
Ethnic origin Caucasoid; Belgium
Relative IL12RB1base; I0025 sister
Comment not vaccinated with BCG. Patient is deceased.
//
ID L77P(1),L77P(1); standard; MUTATION; FNT3-1,FNT3-1
Accession I0036
Systematic name Allele 1 and 2: g.5729T>C, c.230T>C, r.230u>c, p.Leu77Pro
Original code Kindred 29,II.1
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the FNT3-1 domain
Date 21-Apr-2005 (Rel. 1, Created)
Date 21-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 5729
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 294
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 77
Feature /change: L -> P
Feature /domain: FNT3-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 5729
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 294
Feature /codon: ctg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 77
Feature /change: L -> P
Feature /domain: FNT3-1
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG, Salmonella typhimurium
Age 24
Sex XY
Ethnic origin Caucasoid; Brazil
//
ID Q171P(1),#A336X345(1); standard; MUTATION; FNT3-2,FNT3-3
Accession I0035
Systematic name Allele 1: g.10335A>C, c.512A>C, r.512a>c, p.Gln171Pro
Systematic name Allele 2: g.15762_15763delinsG, c.1007_1008delinsG,
Systematic name r.1007_1008delinsg, p.Ala336fsX10
Original code Kindred 28,II.3
Description Allele 1: a point mutation in the exon 5 leading to an
Description amino acid change in the FNT3-2 domain
Description Allele 2: a complex mutation in the exon 9 leading to a
Description premature stop codon in the FNT3-3 domain
Date 21-Apr-2005 (Rel. 1, Created)
Date 21-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 10335
Feature /change: a -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 576
Feature /codon: cag -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 171
Feature /change: Q -> P
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0048: 15762..15763
Feature /change: cc -> g
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048: 1071..1072
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 336
Feature /change: A -> GTPTQNQWLX
Feature /domain: FNT3-3
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG
Age 3
Sex XX
Ethnic origin Caucasoid; Slovakia
//
ID R173P(1),R173P(1); standard; MUTATION; FNT3-2,FNT3-2
Accession I0002
Systematic name Allele 1 and 2: g.10341G>C, c.518G>C, r.518g>c, p.Arg173Pro
Description Allele 1 and 2: point mutation in the exon 5 leading to an
Description amino acid change in the FNT3-2 domain
Date 30-Sep-2002 (Rel. 1, Created)
Date 30-Sep-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11368122
RefAuthors Aksu, G., Tirpan, C., CavuA?oA?lu, C., Soydan, S., Altare,
RefAuthors F., Casanova, J. L., Kutukculer, N.
RefTitle Mycobacterium fortuitum-chelonae complex infection in a
RefTitle child with complete interleukin-12 receptor beta 1
RefTitle deficiency.
RefLoc Pediatr Infect Dis J 20:551-553 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 10341
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 582
Feature /codon: cgg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 173
Feature /change: R -> P
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 10341
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 582
Feature /codon: cgg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 173
Feature /change: R -> P
Feature /domain: FNT3-2
Protein exp. Mutation complitely abolishes Interleukin 12 receptor beta
Protein exp. 1 expression
Sex XY
Age 10
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID R173P(2),R173P(2); standard; MUTATION; FNT3-2,FNT3-2
Accession I0016
Systematic name Allele 1 and 2: g.10341G>C, c.518G>C, r.518g>c, p.Arg173Pro
Original code Kindred 8,II.2
Description Allele 1 and 2: a point mutation in the exon 5 leading to
Description an amino acid change in the FNT3-2 domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 10341
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 582
Feature /codon: cgg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 173
Feature /change: R -> P
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 10341
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 582
Feature /codon: cgg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 173
Feature /change: R -> P
Feature /domain: FNT3-2
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG, Salmonella enteritidis
Age 9
Sex XX
Ethnic origin Caucasoid; Turkey
//
ID R173P(3),R173P(3); standard; MUTATION; FNT3-2,FNT3-2
Accession I0056
Systematic name Allele 1 and 2: g.10341G>C, c.518G>C, r.518g>c, p.Arg173Pro
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change in the FNT3-2 domain
Date 17-Jun-2010 (Rel. 1, Created)
Date 17-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20213287
RefAuthors van de Vosse, E., Ottenhoff, T. H., de Paus, R. A.,
RefAuthors Verhard, E. M., de Boer, T., van Dissel, J. T., Kuijpers,
RefAuthors T. W.
RefTitle Mycobacterium bovis BCG-itis and cervical lymphadenitis
RefTitle due to salmonella enteritidis in a patient with complete
RefTitle interleukin-12/-23 receptor beta1 deficiency.
RefLoc Infection:128-130 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 10341
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048; GI:507150; IL12RB1C: 582
Feature /codon: cgg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 173
Feature /change: R -> P
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 10341
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048; GI:507150; IL12RB1C: 582
Feature /codon: cgg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 173
Feature /change: R -> P
Feature /domain: FNT3-2
Symptoms BCG-itis, cervical lymphadenitis, Salmonella interitidis
Sex XX
Ethnic origin Turkey
Parents Consanguineous
Comment mother and brother are heterozygous carrier of the mutation
Comment 518 g>c
//
ID C198R(1),C198R(1); standard; MUTATION; FNT3-2,FNT3-2
Accession I0049
Systematic name Allele 1 and 2: g.12031T>C, c.592T>C, r.592u>c, p.Cys198Arg
Original code Patient E
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change in the FNT3-2 domain
Date 21-Sep-2005 (Rel. 1, Created)
Date 21-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12594833
RefAuthors Lichtenauer-Kaligis, E. G., de Boer, T., Verreck, F. A.,
RefAuthors van Voorden, S., Hoeve, M. A., van de Vosse, E., Ersoy,
RefAuthors F., Tezcan, I., van Dissel, J. T., Sanal, O., Ottenhoff,
RefAuthors T. H.
RefTitle Severe mycobacterium bovis BCG infections in a large
RefTitle series of novel IL-12 receptor beta1 deficient patients
RefTitle and evidence for the existence of partial IL-12 receptor
RefTitle beta1 deficiency.
RefLoc Eur J Immunol 33:59-69 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12031
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 656
Feature /codon: tgc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 198
Feature /change: C -> R
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12031
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 656
Feature /codon: tgc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 198
Feature /change: C -> R
Feature /domain: FNT3-2
Symptoms Localized Mycobacterium bovis Bacille Calmette-Guerin
Symptoms adenitis within 2 months following vaccination, M. bovis
Symptoms BCG skin lesions recurred several times over a period of
Symptoms several years and each time he responded to treatment with
Symptoms antimycobacterial antibiotics
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID R211P(1),R211P(1); standard; MUTATION; FNT3-2,FNT3-2
Accession I0050
Systematic name Allele 1 and 2: g.12071G>C, c.632G>C, r.632g>c,
Systematic name p.Arg211Pro
Original code Case.4 ref. [2]
Description Allele 1 and 2: A point mutation in the exon 7 leading to
Description an amino acid change in the FNT3-2 domain
Date 14-Sep-2006 (Rel. 1, Created)
Date 22-Jun-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16783466
RefAuthors Lee, W. I., Jaing, T. H., Hsieh, M. Y., Kuo, M. L., Lin,
RefAuthors S. J., Huang, J. L.
RefTitle Distribution, infections, treatments and molecular
RefTitle analysis in a large cohort of patients with primary
RefTitle immunodeficiency diseases (PIDs) in taiwan.
RefLoc J Clin Immunol:274-283 (2006)
RefNumber [2]
RefCrossRef PUBMED; 18972195
RefAuthors Lee, W. I., Huang, J. L., Lin, T. Y., Hsueh, C., Wong, A.
RefAuthors M., Hsieh, M. Y., Chiu, C. H., Jaing, T. H.
RefTitle Chinese patients with defective IL-12/23-interferon-gamma
RefTitle circuit in taiwan: partial dominant interferon-gamma
RefTitle receptor 1 mutation presenting as cutaneous granuloma and
RefTitle IL-12 receptor beta1 mutation as pneumatocele.
RefLoc J Clin Immunol:238-245 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12071
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 696
Feature /codon: cga -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 211
Feature /change: R -> P
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12071
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 696
Feature /codon: cga -> cca; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 211
Feature /change: R -> P
Feature /domain: FNT3-2
Symptoms Salmonella enteritidis D sepsis
Age 7
Sex XY
Ethnic origin Mongoloid; Taiwan
Parents Non-consanguineous
//
ID R213W(1a),R213W(1a); standard; MUTATION; FNT3-2,FNT3-2
Accession I0006
Systematic name Allele 1 and 2: g.12076C>T, c.637C>T, r.637c>u, p.Arg213Trp
Original code Patient 1
Description Allele 1 and 2: point mutation in the exon 7 leading to an
Description amino acid change in the FNT3-2 domain
Date 01-Oct-2002 (Rel. 1, Created)
Date 01-Oct-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11424023
RefAuthors Altare, F., Ensser, A., Breiman, A., Reichenbach, J.,
RefAuthors Baghdadi, J. E., Fischer, A., Emile, J. F., Gaillard, J.
RefAuthors L., Meinl, E., Casanova, J. L.
RefTitle Interleukin-12 receptor beta1 deficiency in a patient with
RefTitle abdominal tuberculosis.
RefLoc J Infect Dis 184:231-236 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12076
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 701
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 213
Feature /change: R -> W
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12076
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 701
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 213
Feature /change: R -> W
Feature /domain: FNT3-2
Sex XY
Ethnic origin Morocco
Parents Consanguineous
Relative IL12RB1base; I0007 sister
//
ID R213W(1b),R213W(1b); standard; MUTATION; FNT3-2,FNT3-2
Accession I0007
Systematic name Allele 1 and 2: g.12076C>T, c.637C>T, r.637c>u, p.Arg213Trp
Original code Patient 2
Description Allele 1 and 2: point mutation in the exon 7 leading to an
Description amino acid change in the FNT3-2 domain
Date 01-Oct-2002 (Rel. 1, Created)
Date 01-Oct-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11424023
RefAuthors Altare, F., Ensser, A., Breiman, A., Reichenbach, J.,
RefAuthors Baghdadi, J. E., Fischer, A., Emile, J. F., Gaillard, J.
RefAuthors L., Meinl, E., Casanova, J. L.
RefTitle Interleukin-12 receptor beta1 deficiency in a patient with
RefTitle abdominal tuberculosis.
RefLoc J Infect Dis 184:231-236 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12076
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 701
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 213
Feature /change: R -> W
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12076
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 701
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 213
Feature /change: R -> W
Feature /domain: FNT3-2
Sex XX
Ethnic origin Morocco
Parents Consanguineous
Relative IL12RB1base; I0006 brother
//
ID R213W(2),R213W(2); standard; MUTATION; FNT3-2,FNT3-2
Accession I0008
Systematic name Allele 1 and 2: g.12076C>T, c.637C>T, r.637c>u, p.Arg213Trp
Original code 31 year old man
Description Allele 1 and 2: point mutation in the exon 7 leading to an
Description amino acid change in the FNT3-2 domain
Date 01-Oct-2002 (Rel. 1, Created)
Date 01-Oct-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11313259
RefAuthors Sakai, T., Matsuoka, M., Aoki, M., Nosaka, K., Mitsuya, H.
RefTitle Missense mutation of the interleukin-12 receptor beta1
RefTitle chain-encoding gene is associated with impaired immunity
RefTitle against mycobacterium avium complex infection.
RefLoc Blood 97:2688-2694 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12076
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 701
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 213
Feature /change: R -> W
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 12076
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 701
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 213
Feature /change: R -> W
Feature /domain: FNT3-2
Sex XY
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
ID @L215X247(1),@L215X247(1); standard; MUTATION; FNT3-2,FNT3-2
Accession I0054
Systematic name Allele 1 and 2: g.12067_12083dup, c.628_644dup,
Systematic name r.628_644dup, p.Gly216fsX32
Original code P3
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 7 leading to a premature stop codon in the FNT3-2
Description domain
Date 14-May-2008 (Rel. 1, Created)
Date 14-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16501992
RefAuthors Tanir, G., Dogu, F., Tuygun, N., Ikinciogullari, A.,
RefAuthors Aytekin, C., Aydemir, C., Yuksek, M., Boduroglu, E. C., de
RefAuthors Beaucoudrey, L., Fieschi, C., Feinberg, J., Casanova, J.
RefAuthors L., Babacan, E.
RefTitle Complete deficiency of the IL-12 receptor beta1 chain:
RefTitle three unrelated turkish children with unusual clinical
RefTitle features.
RefLoc Eur J Pediatr:415-417 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0048: 12084
Feature /change: +ctccgacgac ggcagct
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048; GI:507150; IL12RB1C: 709
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 215
Feature /change: L -> LSDDGSWGAK EVPGASGAAP CAFPLKTPHS LRX
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0048: 12084
Feature /change: +ctccgacgac ggcagct
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048; GI:507150; IL12RB1C: 709
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 215
Feature /change: L -> LSDDGSWGAK EVPGASGAAP CAFPLKTPHS LRX
Feature /domain: FNT3-2
Age 1
Sex XY
Ethnic origin Caucasoid; Turkey
//
ID @P237X294(1),@P237X294(1); standard; MUTATION; FNT3-3,FNT3-3
Accession I0052
Systematic name Allele 1 and 2: g.14298dupC, c.710dupC, r.710dupc,
Systematic name p.Gln238fsX57
Original code P1
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 8 leading to a premature stop codon in the FNT3-3
Description domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16501992
RefAuthors Tanir, G., Dogu, F., Tuygun, N., Ikinciogullari, A.,
RefAuthors Aytekin, C., Aydemir, C., Yuksek, M., Boduroglu, E. C., de
RefAuthors Beaucoudrey, L., Fieschi, C., Feinberg, J., Casanova, J.
RefAuthors L., Babacan, E.
RefTitle Complete deficiency of the IL-12 receptor beta1 chain:
RefTitle three unrelated turkish children with unusual clinical
RefTitle features.
RefLoc Eur J Pediatr:415-417 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0048: 14299
Feature /change: +c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048; GI:507150; IL12RB1C: 775
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 237
Feature /change: P ->
Feature /change: PTASGEILGG AAGPGWEEAA DPERAANPAG ASRRLSRAGA
Feature /change: WHGGHLPTTA PHAVLPVX
Feature /domain: FNT3-3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0048: 14299
Feature /change: +c
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048; GI:507150; IL12RB1C: 775
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 237
Feature /change: P ->
Feature /change: PTASGEILGG AAGPGWEEAA DPERAANPAG ASRRLSRAGA
Feature /change: WHGGHLPTTA PHAVLPVX
Feature /domain: FNT3-3
Symptoms BCG lymphadenitis, mycobacterial infection, spontaneous
Symptoms pneumomediastinum and sucutaneous emphysema.
Age 0,5
Sex XX
//
ID K305X(1),K305X(1); standard; MUTATION; FNT3-3,FNT3-3
Accession I0004
Systematic name Allele 1 and 2: g.15668A>T, c.913A>T, r.913a>u, p.Lys305X
Original code Patient 1
Description Allele 1 and 2: point mutation in the exon 9 leading to a
Description premature stop codon in the FNT3-3 domain
Date 30-Sep-2002 (Rel. 1, Created)
Date 30-Sep-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9603732
RefAuthors Altare, F., Durandy, A., Lammas, D., Emile, J. F.,
RefAuthors Lamhamedi, S., Le Deist, F., Drysdale, P., Jouanguy, E.,
RefAuthors Doffinger, R., Bernaudin, F., Jeppsson, O., Gollob, J. A.,
RefAuthors Meinl, E., Segal, A. W., Fischer, A., Kumararatne, D.,
RefAuthors Casanova, J. L.
RefTitle Impairment of mycobacterial immunity in human interleukin-
RefTitle 12 receptor deficiency.
RefLoc Science 280:1432-1435 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 15668
Feature /change: a -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 977
Feature /codon: aag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 305
Feature /change: K -> X
Feature /domain: FNT3-3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 15668
Feature /change: a -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 977
Feature /codon: aag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 305
Feature /change: K -> X
Feature /domain: FNT3-3
Symptoms mild
Ethnic origin Caucasoid; Morocco
Parents Consanguineous
Relative Description of pedigree:inherited, parents heterozygous
Relative for the mutation
Comment -!-BCG, S. enteriditis
//
ID S321X(1),S321X(1); standard; MUTATION; FNT3-3,FNT3-3
Accession I0019
Systematic name Allele 1 and 2: g.15717C>A, c.962C>A, r.962c>a, p.Ser321X
Original code Kindred 15,II.2
Description Allele 1 and 2: a point mutation in the exon 9 leading to a
Description premature stop codon in the FNT3-3 domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 15717
Feature /change: c -> a
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 1026
Feature /codon: tcg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 321
Feature /change: S -> X
Feature /domain: FNT3-3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 15717
Feature /change: c -> a
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 1026
Feature /codon: tcg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 321
Feature /change: S -> X
Feature /domain: FNT3-3
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Salmonella enteritidis
Age 19
Sex XY
Ethnic origin Caucasoid; Pakistan
Comment No adverse reaction to BCG vaccination
//
ID Y367C(1),Y367C(1); standard; MUTATION; FNT3-4,FNT3-4
Accession I0010
Systematic name Allele 1 and 2: g.18253A>G, c.1100A>G, r.1100a>g,
Systematic name p.Tyr367Cys
Original code Kindred 3,II.3
Description Allele 1 and 2: a point mutation in the exon 10 leading to
Description an amino acid change in the FNT3-4 domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 18253
Feature /change: a -> g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 1164
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 367
Feature /change: Y -> C
Feature /domain: FNT3-4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 18253
Feature /change: a -> g
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0048: 1164
Feature /codon: tat -> tgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 367
Feature /change: Y -> C
Feature /domain: FNT3-4
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG, Salmonella dublin
Age 2
Sex XY
Ethnic origin Cameroon
//
ID Q376X(1),Q376X(1); standard; MUTATION; FNT3-4,FNT3-4
Accession I0005
Systematic name Allele 1 and 2: g.18279C>T, c.1126C>T, r.1126c>u, p.Gln376X
Original code Patient 2
Description Allele 1 and 2: point mutation in the exon 10 leading to a
Description premature stop codon in the FNT3-4 domain
Date 30-Sep-2002 (Rel. 1, Created)
Date 30-Sep-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9603733
RefAuthors de Jong, R., Altare, F., Haagen, I. A., Elferink, D. G.,
RefAuthors Boer, T., van Breda Vriesman, P. J., Kabel, P. J.,
RefAuthors Draaisma, J. M., van Dissel, J. T., Kroon, F. P.,
RefAuthors Casanova, J. L., Ottenhoff, T. H.
RefTitle Severe mycobacterial and salmonella infections in
RefTitle interleukin-12 receptor-deficient patients.
RefLoc Science 280:1435-1438 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 18279
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 1190
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 376
Feature /change: Q -> X
Feature /domain: FNT3-4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 18279
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 1190
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 376
Feature /change: Q -> X
Feature /domain: FNT3-4
Symptoms mild
Sex XX
Ethnic origin Caucasoid; Holland
Parents Non-consanguineous
Relative Description of pedigree:parents heterotsygous for the
Relative mutation
Comment -!-M.avium and Salmonella infections
//
ID Q376X(2),Q376X(2); standard; MUTATION; FNT3-4,FNT3-4
Accession I0021
Systematic name Allele 1 and 2: g.18279C>T, c.1126C>T, r.1126c>u, p.Gln376X
Original code Kindred 18,II.1
Description Allele 1 and 2: a point mutation in the exon 10 leading to
Description a premature stop codon in the FNT3-4 domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 18279
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 1190
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 376
Feature /change: Q -> X
Feature /domain: FNT3-4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 18279
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048: 1190
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 376
Feature /change: Q -> X
Feature /domain: FNT3-4
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Salmonella dublin
Age 30
Sex XY
Ethnic origin Caucasoid; France
Comment No adverse reaction to BCG vaccination
//
ID R486X(1),R486X(1); standard; MUTATION; FNT3-5,FNT3-5
Accession I0055
Systematic name Allele 1 and 2: g.21319C>T, c.1456C>T, r.1456c>u, p.Arg486X
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon in the FNT3-5 domain
Date 16-Jun-2010 (Rel. 1, Created)
Date 16-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19379268
RefAuthors Asilsoy, S., Bilgili, G., Turul, T., Dizdarer, C., Kalkan,
RefAuthors S., Yasli, H., Can, D., Genel, F., Sanal, O.
RefTitle Interleukin-12/-23 receptor beta 1 deficiency in an infant
RefTitle with draining BCG lymphadenitis.
RefLoc Pediatr Int:310-312 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 21319
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048; GI:507150; IL12RB1C: 1520
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 486
Feature /change: R -> X
Feature /domain: FNT3-5
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 21319
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0048; GI:507150; IL12RB1C: 1520
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 486
Feature /change: R -> X
Feature /domain: FNT3-5
Symptoms Lymphadenopathy, hypochromic microcytic anaemia,
Symptoms leukocytosis
Age 0.5
Sex XY
Parents Non-consanguineous
//
ID Q542X(1a),Q542X(1a); standard; MUTATION; EC,EC
Accession I0011
Systematic name Allele 1 and 2: g.25615_25616delinsTT, c.1623_1624delinsTT,
Systematic name r.1623_1624delinsuu, p.Gln542X
Original code Kindred 4,II.1
Description Allele 1 and 2: a complex mutation in the exon 14 leading
Description to a premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
RefNumber [2]
RefCrossRef PUBMED; 9603732
RefAuthors Altare, F., Durandy, A., Lammas, D., Emile, J. F.,
RefAuthors Lamhamedi, S., Le Deist, F., Drysdale, P., Jouanguy, E.,
RefAuthors Doffinger, R., Bernaudin, F., Jeppsson, O., Gollob, J. A.,
RefAuthors Meinl, E., Segal, A. W., Fischer, A., Kumararatne, D.,
RefAuthors Casanova, J. L.
RefTitle Impairment of mycobacterial immunity in human interleukin-
RefTitle 12 receptor deficiency.
RefLoc Science 280:1432-1435 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Mycobacterium avium, M. triplex, Salmonella enteritidis
Age 33
Sex XY
Ethnic origin Caucasoid; Cyprus
Relative IL12RB1base; I0012 sister
Comment No adverse reaction to BCG vaccination.
Comment The patient was previously described to have Q214R
Comment alteration (Ref [2]), which was later shown to be
Comment polymorphism. Accession I0003 was a duplicate of
Comment this patient and it is now removed.
//
ID Q542X(1b),Q542X(1b); standard; MUTATION; EC,EC
Accession I0012
Systematic name Allele 1 and 2: g.25615_25616delinsTT, c.1623_1624delinsTT,
Systematic name r.1623_1624delinsuu, p.Gln542X
Original code Kindred 4,II.3
Description Allele 1 and 2: a complex mutation in the exon 14 leading
Description to a premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Salmonella enteritidis
Age 27
Sex XX
Ethnic origin Cyprus
Relative IL12RB1base; I0011 brother
Comment No adverse reaction to BCG vaccination
//
ID Q542X(3),Q542X(3); standard; MUTATION; EC,EC
Accession I0027
Systematic name Allele 1 and 2: g.25615_25616delinsTT, c.1623_1624delinsTT,
Systematic name r.1623_1624delinsuu, p.Gln542X
Original code Kindred 22,II.1
Description Allele 1 and 2: a complex mutation in the exon 14 leading
Description to a premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Mycobacterium avium
Age 3,5
Sex XY
Ethnic origin Caucasoid; Germany
Comment not vaccinated with BCG. Patient is deceased.
//
ID Q542X(4a),Q542X(4a); standard; MUTATION; EC,EC
Accession I0028
Systematic name Allele 1 and 2: g.25615_25616delinsTT, c.1623_1624delinsTT,
Systematic name r.1623_1624delinsuu, p.Gln542X
Original code Kindred 23,II.1
Description Allele 1 and 2: a complex mutation in the exon 14 leading
Description to a premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG, Salmonella enteritidis
Age 10
Sex XX
Ethnic origin Caucasoid; Germany
Relative IL12RB1base; I0029 sister
//
ID Q542X(4b),Q542X(4b); standard; MUTATION; EC,EC
Accession I0029
Systematic name Allele 1 and 2: g.25615_25616delinsTT, c.1623_1624delinsTT,
Systematic name r.1623_1624delinsuu, p.Gln542X
Original code Kindred 23,II.2
Description Allele 1 and 2: a complex mutation in the exon 14 leading
Description to a premature stop codon in the EC domain
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0048: 25615..25616
Feature /change: gc -> tt
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name:
Feature /loc: IDRefSeq: C0048: 1687..1688
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42701; I12R1_HUMAN: 541..542
Feature /change: VQ -> VX
Feature /domain: EC
Protein exp. no IL-12RB1 expression on the surface of cells
Age 7
Sex XX
Ethnic origin Caucasoid; Germany
Relative IL12RB1base; I0028 sister
Comment not vaccinated with BCG
//
ID Deletion(1),#P582X619(1); standard; MUTATION; ,CP
Accession I0038
Systematic name Allele 1:g.21529..24538del
Systematic name Allele 2: g.26719delC, c.1744delC, r.1744delc,
Systematic name p.Thr583fsX37
Original code Kindred 19,II.1
Description Allele 1: a deletion in the intron 12, exon 13 and part of
Description intron 13
Description Allele 2: a frame shift duplication in the exon 15 leading
Description to a premature stop codon in the CP domain
Date 21-Apr-2005 (Rel. 1, Created)
Date 21-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0048: 21529..24538
Feature /change: -caaggcgggc ggatcacctg aggtcaggag ttcaagacca
Feature /change: gcctgacaaa cttggagaaa ccccgtctct cctaaaaata
Feature /change: caaaattagc cgggcatggt ggcacatgcc tgtaattcta
Feature /change: gctacacggg aggctgaggc aggagaatcg cttgaaccca
Feature /change: ggaggcggag attgcagtga gccgagattg taccagtgca
Feature /change: ctccagcctg ggtgacagag tgagactctg tctcagaaaa
Feature /change: aacaaaaacg aaaacaaaca aacaaaaaac aaaaacaaga
Feature /change: gaattagact tgagggtctt tttttttttt tttttaattt
Feature /change: tatagacagg gactcactct gtgcccaggc tggagtgcag
Feature /change: tggtgccatc atagctcaca gcagcctcaa cctcctgggc
Feature /change: tcaagcgatc ctcccacctc agcctcccta gtagctggaa
Feature /change: acacaggtgc acaccaccat gcacagttaa tattttattt
Feature /change: tttgtagaaa tgaggccttg ctatattgcc caggctggga
Feature /change: ttttttcttt tttttctttt tgagagggag tctgtctctg
Feature /change: tcacccaggc tggagtgcag tggcgccatc tcagctcact
Feature /change: gcaacctctg cctcccgggt tcaggcaatt ctcttgcctc
Feature /change: agcctcccaa gtagctggga ttacaggcac ccaccaccat
Feature /change: gcctggcaaa tttttgtatt tttagcagag acggagtttc
Feature /change: accatgttga ccaggctggt ctcaaactct tgacctcagg
Feature /change: tgaatcaccc gccttggcct cccaaagggc tgggattaca
Feature /change: ggtgtgagcc accgtgtccg gcctcgctca ggctggtttc
Feature /change: aaacttctgg cctcaaacta tcctcccacc ttggcctccc
Feature /change: aaagtgctgg gattagtcat gagcacccag ctgaacttga
Feature /change: gggtctcgat caccccttgc agaccctgga gaaggctggg
Feature /change: tgggcaccag ccaagtgctt atggtgtatt ggattcatcc
Feature /change: atgggaagct gcccctcaca tgtagcagca gctgaactct
Feature /change: catcaagcag ggatgactgt ctccattcca cagatgagga
Feature /change: aactaaggcc tggagggggg atctgatgag ggacaggaaa
Feature /change: gcccacaaaa cagggtttag ccaggagggt ttttggcttt
Feature /change: ccccaggaaa gagttcaagt gcatgtcggt ggtgttagac
Feature /change: agaaactttt actgaagtgg ccgtgtagag cagcagcaga
Feature /change: agtcctgctc cttgcagagt ggggacgccc cacaggcagg
Feature /change: gcagctacgt ctcatattta tacccgcttt taattatatg
Feature /change: caaatgaagg ggcggtttat gcagaaatat ctaggatgaa
Feature /change: ggtagtaact tccgggttgt gggatcattg ccgtggacag
Feature /change: gggcggtaat ttccgggtgt tgccatggta atggtaaact
Feature /change: gacatggcac actggtgggc gtgtcttatg gaaagcccag
Feature /change: gacctgcttt agctagtcct cagtttggtc ctgtgtccaa
Feature /change: gccctgcctc cagagtccaa tcctgcctcc aacctcagat
Feature /change: ccacctgccc aaagatccaa caagtcagcc ggacgcggtg
Feature /change: gctcacgcct gtaatcccag cactttggga ggctgaggcg
Feature /change: ggcggatcac ttgaggccag gagttcaaga ccagcctggc
Feature /change: caacatggtg aaacctcatg tgtattaaaa atacaaaaaa
Feature /change: ttagctggct atggtggtgg gcgcctgtaa tcccggctac
Feature /change: tcaggaggct gaggcacaag aatcgcttga acctgggagg
Feature /change: tggaggttgc agtgagctga gattgtgcca ctgcactcca
Feature /change: gcctgggcaa cagagtgaga ctccatctca aaaaaaaaaa
Feature /change: aaatcttgag atgaatgggc gcattaagag aagagatttt
Feature /change: aggttgggct tggtggctca cacctgtaat cccagcactt
Feature /change: tgggaggccg aggtgggcag atcacgaggt caggagatcg
Feature /change: agaccatcct ggctaacaca gtgaaacccc gtctctacta
Feature /change: caaatacaaa aaattagctg ggcgtggtgg cgggcgcctg
Feature /change: tagtctcagc tactcgggag gctgaggcag gagaatggtg
Feature /change: tgaacccagg aggcagagct tgcagtgagc cgagatggcg
Feature /change: ccactacact ccagcctggg cgacagagca agactccgtc
Feature /change: tcaaaaaaaa aaaaaaaaaa agaaagaaag agtagagatt
Feature /change: ttagcaaaat gcctatgaat ccccacccca cccacaggct
Feature /change: gtggtagccc agcctggcct ctgaggagta aagaggtccc
Feature /change: aggactcagg gttgcctctc ccactgcaga gcatcccgtg
Feature /change: cagcccacag agacccaagt taccctcagt ggcctgcggg
Feature /change: ctggtgtagc ctacacggtg caggtgcgag cagacacagc
Feature /change: gtggctgagg ggtgtctgga gccagcccca gcgcttcagc
Feature /change: atcggtgagt ggagggggta ggacccagtt atttacccag
Feature /change: catgcactgc actgcgcttc ccacaatgat cttagcagcc
Feature /change: ctgccctcac tctcactccc tctatggctc cctactgccc
Feature /change: tcaggagaaa gtagcagctc aaactgctcc cattgccttc
Feature /change: tctcgcagct tcctctcaca ctccaggagc cttgcccatg
Feature /change: caggcccttc cctgcctcct gcctggaatg tttgttttcc
Feature /change: acacggtcca actcctattc gtccttcaaa actcagctca
Feature /change: aaagttccct cctccagcaa gacttctctg cctccttctg
Feature /change: gccatgccct tgtttacaac tgtcccttct ccctggtctg
Feature /change: acactgcggg gttggggtag atgtgtcaag gtatctgggg
Feature /change: gctcttgggg aggaggaaga tgcaggaatc tgttcattga
Feature /change: gcgacaaata aatgaatgca aaaataagga ggacacaggc
Feature /change: aaaacccggt gtggtggctc acacctgtaa tcccagcact
Feature /change: ttgggaggct
Feature /genomic_region: intron; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +183
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0048: 26725
Feature /change: +ca
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048: 1814
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 584
Feature /change: P -> HPVPAPPLSS LEGRRLGSGS TQWTSRKRHP CRRPWWX
Feature /domain: CP
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG, Salmonella dublin
Age 31
Sex XX
Ethnic origin Caucasoid; France
//
ID Intron 1(1),Intron 1(1); standard; MUTATION;
Accession I0040
Systematic name Allele 1 and 2: g.IVS1+5G>A, c.64+5G>A, r.64+5g>a,
Original code BO
Description Allele 1 and 2: a point mutation in the intron 1 leading to
Description aberrant splicing
Date 22-Apr-2005 (Rel. 1, Created)
Date 22-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992283
RefAuthors Elloumi-Zghal, H., Barbouche, M. R., Chemli, J., Bejaoui,
RefAuthors M., Harbi, A., Snoussi, N., Abdelhak, S., Dellagi, K.
RefTitle Clinical and genetic heterogeneity of inherited autosomal
RefTitle recessive susceptibility to disseminated mycobacterium
RefTitle bovis bacille calmette-guérin infection.
RefLoc J Infect Dis 185:1468-1475 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 1133
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 1133
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms axillary, cervical and inguinal adenopathies that had
Symptoms fistulized, hepatosplenomegaly, tuberculoid granuloma
Symptoms without caseous necrosis, buccal candidiasis
Sex XY
Parents Consanguineous
Comment vaccinated with BCG
//
ID Intron 5(1),Intron 5(1); standard; MUTATION;
Accession I0034
Systematic name Allele 1 and 2: g.IVS5+2T>C, c.549+2T>C, r.549+2u>c,
Original code Kindred 26,II.4
Description Allele 1 and 2: a point mutation in the intron 5 leading to
Description an aberrant splicing
Date 21-Apr-2005 (Rel. 1, Created)
Date 21-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 10374
Feature /change: t -> c
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 10374
Feature /change: t -> c
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Mycobacterium spp
Age 6
Sex XX
Ethnic origin Caucasoid; Bosnia-Herzegovina
Comment not vaccinated with BCG
//
ID Intron 5(2),Intron 5(2); standard; MUTATION;
Accession I0039
Systematic name Allele 1 and 2: g.IVS5-2A>G, c.550-2A>G, r.550-2a>g,
Original code KCH
Description Allele 1 and 2: a point mutation in the intron 5 leading to
Description aberrant splicing
Date 22-Apr-2005 (Rel. 1, Created)
Date 22-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992283
RefAuthors Elloumi-Zghal, H., Barbouche, M. R., Chemli, J., Bejaoui,
RefAuthors M., Harbi, A., Snoussi, N., Abdelhak, S., Dellagi, K.
RefTitle Clinical and genetic heterogeneity of inherited autosomal
RefTitle recessive susceptibility to disseminated mycobacterium
RefTitle bovis bacille calmette-guérin infection.
RefLoc J Infect Dis 185:1468-1475 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0048: 11559
Feature /change: a -> g
Feature /genomic_region: intron; 5
Feature dna; 2
Feature /rnalink:4
Feature /name: point
Feature /loc: IDRefSeq: D0048: 11559
Feature /change: a -> g
Feature /genomic_region: intron; 5
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 614..644
Feature /change: -ggcgactgcg gacctcagga tgatgatact g
Feature /note: skipping of exon 6
Feature /inexloc: -2
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0048: 474..644
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg ggcgactgcg gacctcagga
Feature /change: tgatgatact g
Feature /note: skipping of exons 5 and 6
Feature /inexloc: -2
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 184..194
Feature /change: GDCGPQDDDT E -> SPASAPWRX
Feature /domain: FNT3-2
Feature aa; 6
Feature /rnalink: 4
Feature /name: deletion; inframe
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..194
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKLGDC GPQDDDTE
Feature /change: ->
Feature /change: E
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0048: 11559
Feature /change: a -> g
Feature /genomic_region: intron; 5
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0048: 11559
Feature /change: a -> g
Feature /genomic_region: intron; 5
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 614..644
Feature /change: -ggcgactgcg gacctcagga tgatgatact g
Feature /note: skipping of exon 6
Feature /inexloc: -2
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0048: 474..644
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg ggcgactgcg gacctcagga
Feature /change: tgatgatact g
Feature /note: skipping of exons 5 and 6
Feature /inexloc: -2
Feature aa; 11
Feature /rnalink: 9
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 184..194
Feature /change: GDCGPQDDDT E -> SPASAPWRX
Feature /domain: FNT3-2
Feature aa; 12
Feature /rnalink: 10
Feature /name: deletion; inframe
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..194
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKLGDC GPQDDDTE
Feature /change: ->
Feature /change: E
Feature /domain: EC
Symptoms axillary adenitis, disseminated adenopathies that has
Symptoms fistulized, otitis media caused by Pseudomonas aeruginosa,
Symptoms osteomyelitis (Salmonella sp), abscess of the psoas muscle,
Symptoms M. bovis BCG
Sex XX
Parents Consanguineous
Comment vaccinated with BCG
//
ID Intron 5(3),Intron 5(3); standard; MUTATION; FNT3-2,FNT3-2
Accession I0042
Systematic name Allele 1 and 2: g.11568_11574delinsAGATATCA,
Original code Patient A
Description Allele 1 and 2: an indel mutation in the exon 6 leading to
Description aberrant splicing
Date 21-Sep-2005 (Rel. 1, Created)
Date 21-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12594833
RefAuthors Lichtenauer-Kaligis, E. G., de Boer, T., Verreck, F. A.,
RefAuthors van Voorden, S., Hoeve, M. A., van de Vosse, E., Ersoy,
RefAuthors F., Tezcan, I., van Dissel, J. T., Sanal, O., Ottenhoff,
RefAuthors T. H.
RefTitle Severe mycobacterium bovis BCG infections in a large
RefTitle series of novel IL-12 receptor beta1 deficient patients
RefTitle and evidence for the existence of partial IL-12 receptor
RefTitle beta1 deficiency.
RefLoc Eur J Immunol 33:59-69 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: indel
Feature /loc: IDRefSeq: D0048: 11568..11574
Feature /change: gcggacc -> agatatca
Feature /genomic_region: exon; 6
Feature dna; 2
Feature /rnalink: 4
Feature /name: indel
Feature /loc: IDRefSeq: D0048: 11568..11574
Feature /change: gcggacc -> agatatca
Feature /genomic_region: exon; 6
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0048: 474..644
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg ggcgactgcg gacctcagga
Feature /change: tgatgatact g
Feature /note: skipping of exons 5 and 6
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048: 614..644
Feature /change: -ggcgactgcg gacctcagga tgatgatact g
Feature /note: skipping of exon 6
Feature aa; 5
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..194
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKLGDC GPQDDDTE
Feature /change: ->
Feature /change: E
Feature /domain: EC
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 184..194
Feature /change: GDCGPQDDDT E -> SPASAPWRX
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: indel
Feature /loc: IDRefSeq: D0048: 11568..11574
Feature /change: gcggacc -> agatatca
Feature /genomic_region: exon; 6
Feature dna; 8
Feature /rnalink: 10
Feature /name: indel
Feature /loc: IDRefSeq: D0048: 11568..11574
Feature /change: gcggacc -> agatatca
Feature /genomic_region: exon; 6
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0048: 474..644
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg ggcgactgcg gacctcagga
Feature /change: tgatgatact g
Feature /note: skipping of exons 5 and 6
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048: 614..644
Feature /change: -ggcgactgcg gacctcagga tgatgatact g
Feature /note: skipping of exon 6
Feature aa; 11
Feature /rnalink: 9
Feature /name: deletion; inframe
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..194
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKLGDC GPQDDDTE
Feature /change: ->
Feature /change: E
Feature /domain: EC
Feature aa; 12
Feature /rnalink: 10
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 184..194
Feature /change: GDCGPQDDDT E -> SPASAPWRX
Feature /domain: FNT3-2
Symptoms Unusual Mycobacterium bovis Bacille Calmette-Guerin
Symptoms infections following vaccination at the age of 1, followed
Symptoms by S. typhimurium sepsis at the age of 2
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID Intron 5(4a),Intron 5(4a); standard; MUTATION; FNT3-2,FNT3-2
Accession I0043
Systematic name Allele 1 and 2: g.10290_10306delGTATGGAGTGGGAGACC,
Original code Patient B.1
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 5 leading to aberrant splicing
Date 21-Sep-2005 (Rel. 1, Created)
Date 21-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12594833
RefAuthors Lichtenauer-Kaligis, E. G., de Boer, T., Verreck, F. A.,
RefAuthors van Voorden, S., Hoeve, M. A., van de Vosse, E., Ersoy,
RefAuthors F., Tezcan, I., van Dissel, J. T., Sanal, O., Ottenhoff,
RefAuthors T. H.
RefTitle Severe mycobacterium bovis BCG infections in a large
RefTitle series of novel IL-12 receptor beta1 deficient patients
RefTitle and evidence for the existence of partial IL-12 receptor
RefTitle beta1 deficiency.
RefLoc Eur J Immunol 33:59-69 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0048: 10290..10306
Feature /change: -gtatggagtg ggagacc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 474..613
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg
Feature /note: skipping of exon 5
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..183
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKL
Feature /change: ->
Feature /change: GRLRTSGX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0048: 10290..10306
Feature /change: -gtatggagtg ggagacc
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 474..613
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg
Feature /note: skipping of exon 5
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..183
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKL
Feature /change: ->
Feature /change: GRLRTSGX
Feature /domain: EC
Symptoms Disseminated Mycobacterium bovis Bacille Calmette-Guerin
Symptoms infections following vaccination at the age of 5 months.
Symptoms Despite antituberculous chemotherapy, the patient died at
Symptoms the age of 5 years
Sex XY
Ethnic origin Caucasoid; Turkey
Relative IL12RB1base; I0044 brother
//
ID Intron 5(4b),Intron 5(4b); standard; MUTATION; FNT3-2,FNT3-2
Accession I0044
Systematic name Allele 1 and 2: g.10290_10306delGTATGGAGTGGGAGACC,
Original code Patient B.2
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 5 leading to aberrant splicing
Date 21-Sep-2005 (Rel. 1, Created)
Date 21-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12594833
RefAuthors Lichtenauer-Kaligis, E. G., de Boer, T., Verreck, F. A.,
RefAuthors van Voorden, S., Hoeve, M. A., van de Vosse, E., Ersoy,
RefAuthors F., Tezcan, I., van Dissel, J. T., Sanal, O., Ottenhoff,
RefAuthors T. H.
RefTitle Severe mycobacterium bovis BCG infections in a large
RefTitle series of novel IL-12 receptor beta1 deficient patients
RefTitle and evidence for the existence of partial IL-12 receptor
RefTitle beta1 deficiency.
RefLoc Eur J Immunol 33:59-69 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0048: 10290..10306
Feature /change: -gtatggagtg ggagacc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 474..613
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg
Feature /note: skipping of exon 5
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..183
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKL
Feature /change: ->
Feature /change: GRLRTSGX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0048: 10290..10306
Feature /change: -gtatggagtg ggagacc
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 474..613
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg
Feature /note: skipping of exon 5
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..183
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKL
Feature /change: ->
Feature /change: GRLRTSGX
Feature /domain: EC
Sex XY
Ethnic origin Caucasoid; Turkey
Relative IL12RB1base; I0043 brother
Comment Patient was not BCG vaccinated
//
ID Intron 8(1a),Intron 8(1a); standard; MUTATION;
Accession I0009
Systematic name Allele 1 and 2: g.IVS8+1G>C, c.783+1G>C, r.783+1g>c,
Original code Patient 2
Description Allele 1 and 2: point mutation in the intron 8 leading to
Description aberrant splicing
Date 14-May-2003 (Rel. 1, Created)
Date 14-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9603732
RefAuthors Altare, F., Durandy, A., Lammas, D., Emile, J. F.,
RefAuthors Lamhamedi, S., Le Deist, F., Drysdale, P., Jouanguy, E.,
RefAuthors Doffinger, R., Bernaudin, F., Jeppsson, O., Gollob, J. A.,
RefAuthors Meinl, E., Segal, A. W., Fischer, A., Kumararatne, D.,
RefAuthors Casanova, J. L.
RefTitle Impairment of mycobacterial immunity in human interleukin-
RefTitle 12 receptor deficiency.
RefLoc Science 280:1432-1435 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag
Feature /change: cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ
Feature /change: -> ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag
Feature /change: cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ
Feature /change: -> ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
Sex XX
Ethnic origin Caucasoid; Turkey
Relative IL12RB1base; I0013 brother
Parents Consanguineous
//
ID Intron 8(1b),Intron 8(1b); standard; MUTATION;
Accession I0013
Systematic name Allele 1 and 2: g.IVS8+1G>C, c.783+1G>C, r.783+1g>c,
Original code Kindred 5,II.4
Description Allele 1 and 2: a point mutation in the intron 8 leading to
Description aberrant splicing
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Age 12
Sex XY
Ethnic origin Caucasoid; Turkey
Relative IL12RB1base; I0009; sister
Comment not vaccinated with BCG
//
ID Intron 8(2a),Intron 8(2a); standard; MUTATION;
Accession I0014
Systematic name Allele 1 and 2: g.IVS8+1G>C, c.783+1G>C, r.783+1g>c,
Original code Kindred 6,II.2
Description Allele 1 and 2: a point mutation in the intron 8 leading to
Description aberrant splicing
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG, Salmonella enteritidis
Age 14
Sex XX
Ethnic origin Caucasoid; Turkey
Relative IL12RB1base; I0015; sister
//
ID Intron 8(2b),Intron 8(2b); standard; MUTATION;
Accession I0015
Systematic name Allele 1 and 2: g.IVS8+1G>C, c.783+1G>C, r.783+1g>c,
Original code Kindred 6,II.3
Description Allele 1 and 2: a point mutation in the intron 8 leading to
Description aberrant splicing
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG, Salmonella enteritidis
Age 9
Sex XX
Ethnic origin Caucasoid; Turkey
Relative IL12RB1base; I0014; sister
//
ID Intron 8(3a),Intron 8(3a); standard; MUTATION;
Accession I0045
Systematic name Allele 1 and 2: g.IVS8+1G>A, c.783+1G>A, r.783+1g>a,
Original code Patient C.1
Description Allele 1 and 2: a point mutation in the intron 8 leading to
Description aberrant splicing
Date 21-Sep-2005 (Rel. 1, Created)
Date 21-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12594833
RefAuthors Lichtenauer-Kaligis, E. G., de Boer, T., Verreck, F. A.,
RefAuthors van Voorden, S., Hoeve, M. A., van de Vosse, E., Ersoy,
RefAuthors F., Tezcan, I., van Dissel, J. T., Sanal, O., Ottenhoff,
RefAuthors T. H.
RefTitle Severe mycobacterium bovis BCG infections in a large
RefTitle series of novel IL-12 receptor beta1 deficient patients
RefTitle and evidence for the existence of partial IL-12 receptor
RefTitle beta1 deficiency.
RefLoc Eur J Immunol 33:59-69 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ ->
Feature /change: ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ ->
Feature /change: ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
Symptoms Progressive Mycobacterium bovis Bacille Calmette-Guerin
Symptoms infections following vaccination at the age of 4-5 months.
Symptoms Despite treatment, the patient died at the age of almost 4
Symptoms years from multiorgan failure due to disseminated BCG
Symptoms infection
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative IL12RB1base; I0046 sister
//
ID Intron 8(3b),Intron 8(3b); standard; MUTATION;
Accession I0046
Systematic name Allele 1 and 2: g.IVS8+1G>A, c.783+1G>A, r.783+1g>a,
Original code Patient C.2
Description Allele 1 and 2: a point mutation in the intron 8 leading to
Description aberrant splicing
Date 21-Sep-2005 (Rel. 1, Created)
Date 21-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12594833
RefAuthors Lichtenauer-Kaligis, E. G., de Boer, T., Verreck, F. A.,
RefAuthors van Voorden, S., Hoeve, M. A., van de Vosse, E., Ersoy,
RefAuthors F., Tezcan, I., van Dissel, J. T., Sanal, O., Ottenhoff,
RefAuthors T. H.
RefTitle Severe mycobacterium bovis BCG infections in a large
RefTitle series of novel IL-12 receptor beta1 deficient patients
RefTitle and evidence for the existence of partial IL-12 receptor
RefTitle beta1 deficiency.
RefLoc Eur J Immunol 33:59-69 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ ->
Feature /change: ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ ->
Feature /change: ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
Symptoms At the age of 9 months the patient developed granulomatous
Symptoms lesions in several lymph nodes
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative IL12RB1base; I0045 brother
Comment Patient was not BCG vaccinated
//
ID Intron 8(4a),Intron 8(4a); standard; MUTATION;
Accession I0047
Systematic name Allele 1 and 2: g.IVS8+1G>A, c.783+1G>A, r.783+1g>a,
Original code Patient D.1
Description Allele 1 and 2: a point mutation in the intron 8 leading to
Description aberrant splicing
Date 21-Sep-2005 (Rel. 1, Created)
Date 21-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12594833
RefAuthors Lichtenauer-Kaligis, E. G., de Boer, T., Verreck, F. A.,
RefAuthors van Voorden, S., Hoeve, M. A., van de Vosse, E., Ersoy,
RefAuthors F., Tezcan, I., van Dissel, J. T., Sanal, O., Ottenhoff,
RefAuthors T. H.
RefTitle Severe mycobacterium bovis BCG infections in a large
RefTitle series of novel IL-12 receptor beta1 deficient patients
RefTitle and evidence for the existence of partial IL-12 receptor
RefTitle beta1 deficiency.
RefLoc Eur J Immunol 33:59-69 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ ->
Feature /change: ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ ->
Feature /change: ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
Symptoms Severe Mycobacterium bovis Bacille Calmette-Guerin
Symptoms infection following vaccination. Patient responded well to
Symptoms anti-mycobacterial therapy
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative IL12RB1base; I0048 brother
//
ID Intron 8(4b),Intron 8(4b); standard; MUTATION;
Accession I0048
Systematic name Allele 1 and 2: g.IVS8+1G>A, c.783+1G>A, r.783+1g>a,
Original code Patient D.2
Description Allele 1 and 2: a point mutation in the intron 8 leading to
Description aberrant splicing
Date 21-Sep-2005 (Rel. 1, Created)
Date 21-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12594833
RefAuthors Lichtenauer-Kaligis, E. G., de Boer, T., Verreck, F. A.,
RefAuthors van Voorden, S., Hoeve, M. A., van de Vosse, E., Ersoy,
RefAuthors F., Tezcan, I., van Dissel, J. T., Sanal, O., Ottenhoff,
RefAuthors T. H.
RefTitle Severe mycobacterium bovis BCG infections in a large
RefTitle series of novel IL-12 receptor beta1 deficient patients
RefTitle and evidence for the existence of partial IL-12 receptor
RefTitle beta1 deficiency.
RefLoc Eur J Immunol 33:59-69 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ ->
Feature /change: ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 765..847
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag cag
Feature /note: skipping of exon 8
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..261
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQ ->
Feature /change: ANPAGASRRL SRAGAWHGGH LPTTAPHAVL PVX
Feature /domain: FNT3-2
Symptoms Severe Mycobacterium bovis Bacille Calmette-Guerin
Symptoms infection following vaccination. Patient responded well to
Symptoms anti-mycobacterial therapy
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative IL12RB1base; I0047 sister
//
ID Intron 8(5),Intron 8(5); standard; MUTATION;
Accession I0053
Systematic name Allele 1 and 2: g.IVS8+1G>A, c.783+1G>A, r.783+1g>a
Original code P2
Description Allele 1 and 2: A point mutation in the intron 8 leading to
Description an amino acid change
Date 14-May-2008 (Rel. 1, Created)
Date 14-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16501992
RefAuthors Tanir, G., Dogu, F., Tuygun, N., Ikinciogullari, A.,
RefAuthors Aytekin, C., Aydemir, C., Yuksek, M., Boduroglu, E. C., de
RefAuthors Beaucoudrey, L., Fieschi, C., Feinberg, J., Casanova, J.
RefAuthors L., Babacan, E.
RefTitle Complete deficiency of the IL-12 receptor beta1 chain:
RefTitle three unrelated turkish children with unusual clinical
RefTitle features.
RefLoc Eur J Pediatr:415-417 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 14372
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Salmonella infections
Age 0,2
Sex XY
Ethnic origin Caucasoid; Turkey
//
ID Intron 10(1),Intron 10(1); standard; MUTATION;
Accession I0017
Systematic name Allele 1 and 2: g.IVS10-1G>A, c.1190-1G>A, r.1190-1g>a,
Original code Kindred 11,II.2
Description Allele 1 and 2: a point mutation in the intron 10 leading
Description to aberrant splicing
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 19361
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
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 19361
Feature /change: g -> a
Feature /genomic_region: intron; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG
Age 3
Sex XX
Ethnic origin Caucasoid; Saudi Arabia
//
ID Intron 15(1),Intron 15(1); standard; MUTATION;
Accession I0018
Systematic name Allele 1 and 2: g.IVS15+2T>G, c.1791+2T>G, r.1791+2u>g,
Original code Kindred 14,II.2
Description Allele 1 and 2: a point mutation in the intron 15 leading
Description to aberrant splicing
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Salmonella enteritidis
Age 8
Sex XX
Ethnic origin Caucasoid; Iran
Comment not vaccinated with BCG
//
ID Intron 15(2),Intron 15(2); standard; MUTATION;
Accession I0020
Systematic name Allele 1 and 2: g.IVS15+2T>G, c.1791+2T>G, r.1791+2u>g,
Original code Kindred 16,II.1
Description Allele 1 and 2: a point mutation in the intron 15 leading
Description to aberrant splicing
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated BCG
Age 18
Sex XY
Ethnic origin Caucasoid; Sri-Lanka
//
ID Intron 15(3a),Intron 15(3a); standard; MUTATION;
Accession I0030
Systematic name Allele 1 and 2: g.IVS15+2T>G, c.1791+2T>G, r.1791+2u>g,
Original code Kindred 24,II.1
Description Allele 1 and 2: a point mutation in the intron 15 leading
Description to aberrant splicing
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Age 16
Sex XX
Ethnic origin Caucasoid; Spain
Relative IL12RB1base; I0031; sister
Relative IL12RB1base; I0032; sister
Comment not vaccinated with BCG
//
ID Intron 15(3b),Intron 15(3b); standard; MUTATION;
Accession I0031
Systematic name Allele 1 and 2: g.IVS15+2T>G, c.1791+2T>G, r.1791+2u>g,
Original code Kindred 24,II.2
Description Allele 1 and 2: a point mutation in the intron 15 leading
Description to aberrant splicing
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Mycobacterium tuberculosis in lungs, Salmonella enteritidis
Age 14
Sex XX
Ethnic origin Caucasoid; Spain
Relative IL12RB1base; I0030; sister
Relative IL12RB1base; I0032; sister
Comment not vaccinated with BCG
//
ID Intron 15(3c),Intron 15(3c); standard; MUTATION;
Accession I0032
Systematic name Allele 1 and 2: g.IVS15+2T>G, c.1791+2T>G, r.1791+2u>g,
Original code Kindred 24,II.3
Description Allele 1 and 2: a point mutation in the intron 15 leading
Description to aberrant splicing
Date 20-Apr-2005 (Rel. 1, Created)
Date 20-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Disseminated Mycobacterium tuberculosis
Age 7
Sex XX
Ethnic origin Caucasoid; Spain
Relative IL12RB1base; I0030; sister
Relative IL12RB1base; I0031; sister
Comment not vaccinated with BCG
//
ID Intron 15(4),Intron 15(4); standard; MUTATION;
Accession I0033
Systematic name Allele 1 and 2: g.IVS15+2T>G, c.1791+2T>G, r.1791+2u>g,
Original code Kindred 25,II.1
Description Allele 1 and 2: a point mutation in the intron 15 leading
Description to aberrant splicing
Date 21-Apr-2005 (Rel. 1, Created)
Date 21-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Mycobacterium avium, Salmonella enteritidis
Age 4
Sex XX
Ethnic origin Caucasoid; Spain
Comment not vaccinated with BCG
//
ID Intron 15(6),Intron 15(6); standard; MUTATION;
Accession I0041
Systematic name Allele 1 and 2: g.IVS15+2T>G, c.1791+2T>G, r.1791+2u>g,
Original code 6-yr-old boy
Description Allele 1 and 2: a point mutation in the intron 15 leading
Description to aberrant splicing
Date 26-Apr-2005 (Rel. 1, Created)
Date 26-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496448
RefAuthors Cleary, A. M., Tu, W., Enright, A., Giffon, T., Dewaal-
RefAuthors Malefyt, R., Gutierrez, K., Lewis, D. B.
RefTitle Impaired accumulation and function of memory CD4 T cells
RefTitle in human IL-12 receptor beta 1 deficiency.
RefLoc J Immunol 170:597-603 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048: 1780..1855
Feature /change: -ggccgcacgg cacctgtgcc cgccgctgcc cacaccctgt
Feature /change: gccagctccg ccattgagtt ccctggaggg aaggag
Feature /note: skipping of exon 15
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 572..597
Feature /change: RAARHLCPPL PTPCASSAIE FPGGKE ->
Feature /change: RLGSGSTQWT SRKRHPCRRP WWX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0048: 1780..1855
Feature /change: -ggccgcacgg cacctgtgcc cgccgctgcc cacaccctgt
Feature /change: gccagctccg ccattgagtt ccctggaggg aaggag
Feature /note: skipping of exon 15
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 572..597
Feature /change: RAARHLCPPL PTPCASSAIE FPGGKE ->
Feature /change: RLGSGSTQWT SRKRHPCRRP WWX
Feature /domain: CP
Protein exp. Salmonella group D gastroenteritis
Age 6
Sex XY
Ethnic origin Caucasoid; Iran
Parents Consanguineous
Comment not vaccinated with BCG
//
ID Intron 15(7),Intron 15(7); standard; MUTATION;
Accession I0057
Systematic name Allele 1 and 2: g.26768T>G, c.1791+2T>G, r.1791+2u>g
Original code P1
Description Allele 1 and 2: A point mutation in the intron 15 leading
Description to aberrant splicing
Date 05-Aug-2010 (Rel. 1, Created)
Date 05-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20171917
RefAuthors Pedraza-Sanchez, S., Herrera-Barrios, M. T., Aldana-
RefAuthors Vergara, R., Neumann-Ordonez, M., Gonzalez-Hernandez, Y.,
RefAuthors Sada-Diaz, E., de Beaucoudrey, L., Casanova, J. L., Torres-
RefAuthors Rojas, M.
RefTitle Bacille calmette-guérin infection and disease with fatal
RefTitle outcome associated with a point mutation in the
RefTitle interleukin-12/interleukin-23 receptor beta-1 chain in two
RefTitle mexican families.
RefLoc Int J Infect Dis:b (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Fever; Axillary adenitis; Chronic granulomatous
Symptoms lymphadenitis; Anemia; Micronodular infiltrate; Adenopathy;
Age 6 mo
Sex XX
Ethnic origin Mexico
Parents Non-consanguineous
//
ID Intron 15(8a),Intron 15(8a); standard; MUTATION;
Accession I0058
Systematic name Allele 1 and 2: g.26768T>G, c.1791+2T>G, r.1791+2u>g
Original code P2
Description Allele 1 and 2: A point mutation in the intron 15 leading
Description to aberrant splicing
Date 05-Aug-2010 (Rel. 1, Created)
Date 05-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20171917
RefAuthors Pedraza-Sanchez, S., Herrera-Barrios, M. T., Aldana-
RefAuthors Vergara, R., Neumann-Ordonez, M., Gonzalez-Hernandez, Y.,
RefAuthors Sada-Diaz, E., de Beaucoudrey, L., Casanova, J. L., Torres-
RefAuthors Rojas, M.
RefTitle Bacille calmette-guérin infection and disease with fatal
RefTitle outcome associated with a point mutation in the
RefTitle interleukin-12/interleukin-23 receptor beta-1 chain in two
RefTitle mexican families.
RefLoc Int J Infect Dis:b (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Axillary adenopathy; Oral herpes infection; Pneumonia;
Age 6 mo
Sex XY
Ethnic origin Mexico
Parents Non-consanguineous
Relative IL12RB1base; I0059; brother
//
ID Intron 15(8b),Intron 15(8b); standard; MUTATION;
Accession I0059
Systematic name Allele 1 and 2: g.26768T>G, c.1791+2T>G, r.1791+2u>g
Original code P2.1
Description Allele 1 and 2: A point mutation in the intron 15 leading
Description to aberrant splicing
Date 05-Aug-2010 (Rel. 1, Created)
Date 05-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20171917
RefAuthors Pedraza-Sanchez, S., Herrera-Barrios, M. T., Aldana-
RefAuthors Vergara, R., Neumann-Ordonez, M., Gonzalez-Hernandez, Y.,
RefAuthors Sada-Diaz, E., de Beaucoudrey, L., Casanova, J. L., Torres-
RefAuthors Rojas, M.
RefTitle Bacille calmette-guérin infection and disease with fatal
RefTitle outcome associated with a point mutation in the
RefTitle interleukin-12/interleukin-23 receptor beta-1 chain in two
RefTitle mexican families.
RefLoc Int J Infect Dis:b (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0048: 26768
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Axillary adenitis; Granulomatous adenopathy;
Age 4 mo
Sex XY
Ethnic origin Mexico
Parents Non-consanguineous
Relative IL12RB1base; I0058; brother
//
ID Deletion(1),Deletion(1); standard; MUTATION;
Accession I0037
Systematic name Allele 1 and 2:g.12502..24667del
Original code Kindred 10,II.2
Description Allele 1 and 2: a large inframe deletion leading to
Description truncated protein
Date 21-Apr-2005 (Rel. 1, Created)
Date 21-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12591909
RefAuthors Fieschi, C., Dupuis, S., Catherinot, E., Feinberg, J.,
RefAuthors Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le
RefAuthors Deist, F., Kayal, S., Koch, H., Richter, D., Brezina, M.,
RefAuthors Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva
RefAuthors Duarte, A. J., Tuerlinckx, D., Virelizier, J. L., Fischer,
RefAuthors A., Enright, A., Bernhoft, J., Cleary, A. M., Vermylen,
RefAuthors C., Rodriguez-Gallego, C., Davies, G., Blutters-Sawatzki,
RefAuthors R., Siegrist, C. A., Ehlayel, M. S., Novelli, V., Haas, W.
RefAuthors H., Levy, J., Freihorst, J., Al-Hajjar, S., Nadal, D., De
RefAuthors Moraes Vasconcelos, D., Jeppsson, O., Kutukculer, N.,
RefAuthors Frecerova, K., Caragol, I., Lammas, D., Kumararatne, D.
RefAuthors S., Abel, L., Casanova, J. L.
RefTitle Low penetrance, broad resistance, and favorable outcome of
RefTitle interleukin 12 receptor beta1 deficiency: medical and
RefTitle immunological implications.
RefLoc J Exp Med 197:527-535 (2003)
RefNumber [2]
RefCrossRef PUBMED; 15178580
RefAuthors Fieschi, C., Bosticardo, M., de Beaucoudrey, L., Boisson-
RefAuthors Dupuis, S., Feinberg, J., Santos, O. F., Bustamante, J.,
RefAuthors Levy, J., Candotti, F., Casanova, J. L.
RefTitle A novel form of complete IL-12/IL-23 receptor beta1
RefTitle deficiency with cell surface-expressed nonfunctional
RefTitle receptors.
RefLoc Blood 104:2095-2101 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0048: 12502..24667
Feature /change: -tgggaggctg aggcaggaga atcccttgaa cccgggaggt
Feature /change: ggaggttgca gggatccaag atcacaccac tgcactccag
Feature /change: cctgggtgac agggccagac tctgtctcaa aaaaaagtaa
Feature /change: aaaaaaaaaa aaaagtaata ataaaataaa atggaaaaag
Feature /change: aaataaggca gcaggtatta gaaacaaggt ggtgagtgtt
Feature /change: agaaataagg cagagggaga aatgggtgct caaaccctga
Feature /change: caatgtggca tccggtcttg ctgcacccac tttagggttt
Feature /change: tttgctgctg ttttttttgt ttgtttgttt gttgtttttt
Feature /change: gttgtttttt tttttgagac ggagtctcac tctgtcaccc
Feature /change: aggctggagt gcagtggcgc catctcggct cactgcaagc
Feature /change: tccgcctccc gggttcacgc cattgtcctg cctcagcctc
Feature /change: ccaagtagct gggactacag gtgtctgcaa ccacgcccgg
Feature /change: ttaatttttt gtatttttta gtagagacgg ggtttcacca
Feature /change: tgttagccag gatggtctca atctcctgac ctcgtgatct
Feature /change: gccctcctcg gcctcccaaa gtgctgggat tacaggcgtg
Feature /change: agccaccgcg cccggcctac tgctattttt tgttttgttt
Feature /change: tgagactgtc ttgctctgtc accctggctg gagtgcagtg
Feature /change: gtgtgatctt ggctcactgc aacctccgcc tcacgggttc
Feature /change: aagcgattct cctgcctcag cctccagagt agctgggatt
Feature /change: tacaggcatg caccaccacg cccagctaat tttgtatttt
Feature /change: tagtagagat ggggtttcgc catgtttgcc cggctggtct
Feature /change: cgaactcctg gcctcaagtg atcctcccac cacggtctcc
Feature /change: caaagtgcta gaattccagg tatgagccac tgcgctcagc
Feature /change: ccactacagg gctttatcaa gtgagaatca tcaggctgaa
Feature /change: cctcacggtg tctcaaggac aatgtcacct gcaggtggca
Feature /change: gggtgtacta aacagctgct gccctgagcc tgggcaacag
Feature /change: gaaaatgagt gagagggttt caaaccatgc agaaaggcct
Feature /change: ggcgctgtgg tttatgcctg taatcccagc actttgggag
Feature /change: gccgaggcca gaggattgtt tgaggccagg agtttgagac
Feature /change: aagcctggga atcaaaacga gactctgtct ctagtctata
Feature /change: aaacaacagc aacaacaaca aaaccatgca gagaaataca
Feature /change: tttgcattca aaaaggaact tagaggccag gcgcagtggc
Feature /change: tcacgcctat aattccagca gtttgggagg ccgaggcaag
Feature /change: tggatcacaa ggtcaggagt tcaagaacag cctgaccaac
Feature /change: atggtgaaac cccgtctcta ctaaaaatac aaaaattagc
Feature /change: cggacatggt ggtgcatgcc tgtaatccca gctacttgga
Feature /change: aggctgaggc aggagaatcg cttgaaccca gaaggcagag
Feature /change: attgcagtga gccgagatcg caccagtgca ctccagccta
Feature /change: ggtaatagag tgagacttcg tctcaaaaag caaacgaaca
Feature /change: aacaaacaaa caaaaaacct taggcaacat gagattacag
Feature /change: gtggcagtta tccctgggga tgcaaattgt gttaattttt
Feature /change: cttccttcag ttttttctct tttctgcaat ttggggcagc
Feature /change: aagggatttt cactttgtaa atgtggagaa tccatcattt
Feature /change: acaaagaaaa catccatcag tctttctctc cttccaattc
Feature /change: gtctagttgg tttggttctg attgcagaaa accccccaca
Feature /change: gcctcaggtg agattctcgg tggagcagct gggccaggat
Feature /change: gggaggaggc ggctgaccct gaaagagcag gtaacggggc
Feature /change: tgtcacaggg ctgtggggtg gcctgggatg gggagcagga
Feature /change: ggcaaaagcc taggcggggg atgagcaagt ggtagatgga
Feature /change: gggagatgag atgtagaggt ggcaggaagt gggcaaattg
Feature /change: tgggtttaac tctgaaggta atagggagcc atggagtgtg
Feature /change: tgtgtgagca ggagaggcac atgactggac tcagatgttc
Feature /change: acagactttc cctggctcct gtgtgagaaa cagagtgtgg
Feature /change: gggaattgca cagaagccag aaggccagga aggagataat
Feature /change: ggtgactgca tttgcctggg tagcagatta ttgctttaag
Feature /change: tcccaaaaca acccattaag tgcagtctga ttagtttaca
Feature /change: gagagggaaa ctgaggcata gagggagtat ctctgttgag
Feature /change: acaaaactga caaatactcc actcgttgac tttaccatag
Feature /change: tcatcttagt caggtcccta atgggctgtt actataaggc
Feature /change: tgtagcaaaa atcctttatt tcctatgttc ctctaactca
Feature /change: aattcctctt cttttttttc cttttttttt tttttttttt
Feature /change: gagatggagt cttgctctgt cgcccaggct ggagtgcagt
Feature /change: ggcgccatct cggctcacta caagctccgc ctcccgggtt
Feature /change: cacgccattc tcctgcctca gcctcccgag tagctgggac
Feature /change: tacaggcgcc caccaccatg ccgggctaat tttttgtatt
Feature /change: tttagtagag acggggtttc accgtgttag ccaggatggt
Feature /change: ctcaatctcc tgacctcatg atctacccgt ctcggcctcc
Feature /change: caaagtgctg ggattagagg cgtgagcccc cgtgcccggc
Feature /change: ctctcaaatt ccttttctaa ggaaaaattt tctgcttgag
Feature /change: gtaactgggt taaaagatgg aaacattttt gttttcctga
Feature /change: atgtcagtgg gttttgtcaa tttcccacct ccctcaagct
Feature /change: agatgtgtgc gggaggtgaa tgcctgtctc acagcagctt
Feature /change: tgccagcatt gaggtttatt attcttttaa tttttgatgc
Feature /change: atgttattgg ctgtggcctt tgtccaagtc tgtcttcata
Feature /change: ggctgtgccc tgctgtctgc ctatgggatg atgagtgtga
Feature /change: tcaggtaccc acaagctgtc tttcatactc ctgacagcca
Feature /change: acccagctgg agcttccaga aggctgtcaa gggctggcgc
Feature /change: ctggcacgga ggtcacttac cgactacagc tccacatgct
Feature /change: gtcctgcccg tgtaaggcca aggccaccag gaccctgcac
Feature /change: ctggggaaga tgccctatct ctcgggtgct gcctacaacg
Feature /change: tggctgtcat ctcctcgaac caatttggtc ctggcctgaa
Feature /change: ccagacgtgg cacattcctg ccgacaccca cacaggtgcc
Feature /change: tcctctgggt ggggagggcg gtatgagggc ccctcagagc
Feature /change: tgagcaccta ctctgagcct cagctagacc agggtgagag
Feature /change: gagcgaggca gaaaatttta aaggagtgcc tgatttaggg
Feature /change: gtgtatcaaa aattcagtaa tcagccaggc acggtggctc
Feature /change: acacctgtaa tcccagcact ttgggaggct aagacaggtg
Feature /change: aatcacctga ggtcagcagt tcgagaccag tctggccaac
Feature /change: gtggtgaaac ccagtctcta ctaaaaatac aaaaattagc
Feature /change: tgagtgtggt ggctgtagtc ccagctactt gggaggctga
Feature /change: ggcaggagaa tcgcttgaac ccaggagcca gaggttgcag
Feature /change: tgagccaaaa ttgtgccatt gcactccagc ctgggcaaca
Feature /change: aagagcaaga ctgtgtcaaa aaaaaaaaat tcaataatca
Feature /change: agatccataa tgcagttttt tgttgttgtt ggtttgtttt
Feature /change: ttttaagaga cagagttttg ctatgttgcc caggctggac
Feature /change: ttgaacttct gggctcaagc aatctttctc cctcagcctc
Feature /change: ccaaatagct gggaatatag gcatgtgcca tcatacctgg
Feature /change: ctattatgca ttattaaaga acaacaacaa aaactagctg
Feature /change: agccactgcg ctccaccctg gttgatagag ctacactctt
Feature /change: tttcaaaaaa gaaaaaagag agaaagaaag aaaaaaggct
Feature /change: agagttgacc ctgtgtttat ttaagatcta atttcttttt
Feature /change: tttcttgtga cagatggcat gatctcagct cactgcaacc
Feature /change: tccgccttcc agattcaaga gattctcctg cttcagcctc
Feature /change: ccgagtagct gggattacag gcatctgcca ccatacccgg
Feature /change: ctaattttgt atttttagta gagacggggt ttcaccacgt
Feature /change: tggccaggct ggtctcgaac tcctgacctc aagtgatcca
Feature /change: cctgccttgg cctcccaaag tgttgggatt ataggcgtga
Feature /change: gccaccatgc ccagcctaat ttttgtattt ttagtagaga
Feature /change: tggagtttca ccatgttgcc caggctggtc tcaaactcct
Feature /change: gccctcaggt gatccaccca cctcagcctc tcaaagtgct
Feature /change: gggattacag gtgtgagcca ctgtggccga cctactattt
Feature /change: ttattatttt tgagctaggt tctcagtctg ttggcagact
Feature /change: ggagtgcaat catggctcac tgcagccttg aactcccaga
Feature /change: ctcaagtgat ccttccacct cagcctctgg agtagctggg
Feature /change: actacagaca tgcaccacca cacctggtta attttttatt
Feature /change: tttatttttt gtagagacag gtgtctctct acgttgccca
Feature /change: ggctggtctc gaactcctgg gctcaagtga tccacccatc
Feature /change: tccacctccc aaagtgctag gattacaggc gtgagccacc
Feature /change: gtacccagcc tggtcccata tcatagtgaa atggtgcctg
Feature /change: taaagctctc agcattggct tggcacatgc agttggtact
Feature /change: caataaacgg ctgttgctat ccccagaatt gcaagcagta
Feature /change: tccatctctc tgacattcat gaagacgccc tggcgggagg
Feature /change: gagtgggaga gatttgccca gggactgagt gggtgtgtgc
Feature /change: tcgtgcttct gagtttggca tgagaccacc agtggcgccg
Feature /change: gtcaggccag ggaggcctag tcttgcatca cactctccgc
Feature /change: ctaggctagg caagtggtgg gcagccaggt atctgccaca
Feature /change: gccggagacg cctacaaggc tggaagtggg tgtaatggca
Feature /change: gtacaggaag ctctcatggt gaatatcctg gcaaggagac
Feature /change: agcagttagg ctggaggagg actcagctca ttcaaacacc
Feature /change: acctgctgac tggatgcggc ggattatgcc tgtaatccca
Feature /change: gcactttggg aagccaaggc aggtggatca ctggaggtca
Feature /change: ggagttcgag accagcctgg gcaacacggt gaaaccccat
Feature /change: ctccaccaaa aaataataat aaattagcca ggaaatggtg
Feature /change: gcgcatgcct gtggtcccag ctactcagga ggctgaggca
Feature /change: ggagactcat ttgaacccgg gaggctgagg ttgcagggag
Feature /change: ccgagatcat gccactgcac tccagcctgg gcgacagagc
Feature /change: aagaatccgt ctccaaagaa aaaacaaaaa aaaacaaacg
Feature /change: ccatctgcta cccactttgt gcctggcccc aaggcagcct
Feature /change: ccagtgcagg gaaacagcca aacacagaca cccctggccc
Feature /change: tgtagggtca ggggtataga cgagagggtg ggagagaggc
Feature /change: tgcaggagcc agagaagggg actggggaga gagatggcaa
Feature /change: ctgtctcgat gcgtctctcc cctctccttc cagaaccagt
Feature /change: ggctctgaat atcagcgtcg gaaccaacgg gaccaccatg
Feature /change: tattggccag cccgggctca gagcatgacg tattgcattg
Feature /change: aatggcagcc tgtgggccag gacgggggcc ttgccacctg
Feature /change: cagcctgact gcgccgcaag acccggatcc ggctggaatg
Feature /change: ggtaatggcc tggaatggcc tgcgcctacc cctcctctgt
Feature /change: gccctccctt ttaggtcctg gtgggttcaa acctgcaggg
Feature /change: aaggcacaca gcgggtgtct aaggcccaga gaggtgttgc
Feature /change: tgcttactca atgtcataca gaggtaggga cagggtgagg
Feature /change: ttcggagcct ctcacccata tgggtctgga acctcttgct
Feature /change: ggcatcctga gctcagttcc aggcagatca cacacataca
Feature /change: ggtaatgaat ctcacatccc aaggtgtttg ttaaatattc
Feature /change: aaccgcgcca gggaaggtgg cagttcgcga gatgctggtg
Feature /change: gcaaattaat gagcagtctt tagggaaagg ggggccgtga
Feature /change: ggctcaggtg gcctctcact ctcccgcttc ctgctctggg
Feature /change: ccttgccaga gccccagaaa gcctcagcct cagcctgttc
Feature /change: cttgaagaat acacagcctg aggagacaga actggacacg
Feature /change: gaacccctga ccccattgtc cgggcaaggt ggctaacacc
Feature /change: tgtaatccca gcactttggg aggctgaggc aggtggatca
Feature /change: acagaggtca ggagttcgag accagcctgg ccaacatgga
Feature /change: gaaaccctgt ctctactaaa aatataaaaa ttagccaggc
Feature /change: atgatggtgt gcacctgtaa atcccagcta ctcaggaggc
Feature /change: tgagacagga gaatcgcttg aacccgggag gcagggattg
Feature /change: cagtgagtca agattgcgct attgcactcc agcctgggtg
Feature /change: acacagcgag actccatctc aaaaaaaaaa aaaaaagaag
Feature /change: ccctggttcc atggagtaag ggctgggtta gagggggatg
Feature /change: gggatggggt tgggggtgtt gcatagggaa gagatcttgg
Feature /change: aggaggggat attggtgcaa gggctttgaa acatgagtag
Feature /change: gagttttctg ggggttcctg gcagatggca cagccagtgc
Feature /change: aaaggtgcag aggtgggaac acaatctact gaatggcctg
Feature /change: gcctttgctt atccttccag caacctacag ctggagtcga
Feature /change: gagtctgggg caatggggca ggaaaagtgt tactacatta
Feature /change: ccatctttgc ctctgcgcac cccgagaagc tcaccttgtg
Feature /change: gtctacggtc ctgtccacct accactttgg gggcaatggt
Feature /change: aagtgaccca aacctgcagg tttacattat tttttctttt
Feature /change: taaataattt aaaaaaatag aggctgggca cagtgactca
Feature /change: cgcatgtaat cccagcactt tgggaggcca aggtgggtgg
Feature /change: atcacctgag gtcaggagtt tgaaaccagc ctggccaatg
Feature /change: tggcgaaacc ctgtctctac taaaaataca aaaattagcc
Feature /change: gggtgtggtg gcgggtgcct gtaattccag atacttggga
Feature /change: ggctgaggca ggagaatcgc ttgaacccag gaggcggagg
Feature /change: ttgcagtgag ctgagatcat gccactgtac tccagtctgg
Feature /change: gtgacagagc aagactctgt ctcaaaaaaa aaaaaaaaaa
Feature /change: aaaaaaaaag gacaatgctg ttaaggcaga cagaatggct
Feature /change: cacccctgta atcccagcac tttggcactt tgggaggctg
Feature /change: aggcttgtgg atcacttgaa cccaggagtt caagaacagc
Feature /change: ctgggcaaca tagcaagacc ccgtctctac agaaagaaaa
Feature /change: aagtttgcca gccatggtgg catgtgcctg tagtcccaac
Feature /change: tactcaggag gctgaggtgg taagatcact tgatcccagg
Feature /change: agtttgaggc tgcagtgagc tatgattgca ccactgcaat
Feature /change: catacaacct ctgcctcccg ggttcaagcc attctccttc
Feature /change: ctcagcctcc tgagtagctg ggattatagg tgtgcactac
Feature /change: catgcctgga taattttttg tatctttagt agagacaggg
Feature /change: ttttagcatg ttggccaggc tggtctcaaa tgcctaacct
Feature /change: cgtgatccac ctgccttggc ctcccaaagt gccgggatta
Feature /change: caggtgtgag ccactgcgcc cggccagcat tgtccatttt
Feature /change: atagataaga aaactgaggc ccagggaagg gaaatgacag
Feature /change: tgactgagtg gcagaaccag aattaaaacc cagctcacct
Feature /change: gactctgtgg ccaatgttac ctccgtctct ggacagtggg
Feature /change: aggctgggca ttcaggaagt gctcaaccag cactcctttt
Feature /change: tttttttttt tttttttttt cttgagacag agtcactctc
Feature /change: tgtggcccag gctggagtgc agtggcacga tcttggctca
Feature /change: ctgaaacctc tgcatcccgg gttcaagcga ttctcgtgcc
Feature /change: tcagcctgcc gagtagctgg gattacaggc gcccaccatc
Feature /change: atgcctggct aatttttgta gttttagtag aaacagggtt
Feature /change: tccccatgtt cctcaggcta gtctcgaact cctgacctta
Feature /change: agtgatctac ccaccttggc ctcccaatat gctgggattg
Feature /change: caggcatgag ccatcgtggc tgggcttttt ttttttttta
Feature /change: aagacagggt cttgctctgt tgcccaggct ggagtgcagt
Feature /change: ggtgccatct tggctcactg caacctctgc ctcctgggct
Feature /change: caagtgattc tcctgcctca gcctcctgag tagctgggat
Feature /change: tacaggtgtc cgccaccatg cctggctaat ttttgtattt
Feature /change: ttagtagaga aggggttttg ccatgttggc caggctggtc
Feature /change: ttgaactcct ggcctcaaat gacttaccca cctcggcctc
Feature /change: ccaaagtgct gggattacag gtgcgagcca ctgtgccagg
Feature /change: cctcgaccag cattcttggt gttgactatg acaatggtac
Feature /change: tggttgcagc ctcagcagct gggacaccgc accacgtctc
Feature /change: ggtgaagaat catagcttgg actctgtgtc tgtggactgg
Feature /change: gcaccatccc tgctgagcac ctgtcccggc gtcctaaagg
Feature /change: agtatgttgt ccgctgccga gatgaagaca gcaaacaggt
Feature /change: gtcaggtacg tgaggcagtg cagacctggc ttggggagga
Feature /change: agggaggatc ctggcctgtg atctctcttg ctgtgtgacc
Feature /change: ctgggcacct tgccgtcctt ctctgggcct tggttatcaa
Feature /change: acccttaaaa caagagaatt ggctgggcgc agtggctcac
Feature /change: gcctgtaatc ccagcacttt gggaggccaa ggcgggcgga
Feature /change: tcacctgagg tcaggagttc aagaccagcc tgacaaactt
Feature /change: ggagaaaccc cgtctctcct aaaaatacaa aattagccgg
Feature /change: gcatggtggc acatgcctgt aattctagct acacgggagg
Feature /change: ctgaggcagg agaatcgctt gaacccagga ggcggagatt
Feature /change: gcagtgagcc gagattgtac cagtgcactc cagcctgggt
Feature /change: gacagagtga gactctgtct cagaaaaaac aaaaacgaaa
Feature /change: acaaacaaac aaaaaacaaa aacaagagaa ttagacttga
Feature /change: gggtcttttt tttttttttt ttaattttat agacagggac
Feature /change: tcactctgtg cccaggctgg agtgcagtgg tgccatcata
Feature /change: gctcacagca gcctcaacct cctgggctca agcgatcctc
Feature /change: ccacctcagc ctccctagta gctggaaaca caggtgcaca
Feature /change: ccaccatgca cagttaatat tttatttttt gtagaaatga
Feature /change: ggccttgcta tattgcccag gctgggattt tttctttttt
Feature /change: ttctttttga gagggagtct gtctctgtca cccaggctgg
Feature /change: agtgcagtgg cgccatctca gctcactgca acctctgcct
Feature /change: cccgggttca ggcaattctc ttgcctcagc ctcccaagta
Feature /change: gctgggatta caggcaccca ccaccatgcc tggcaaattt
Feature /change: ttgtattttt agcagagacg gagtttcacc atgttgacca
Feature /change: ggctggtctc aaactcttga cctcaggtga atcacccgcc
Feature /change: ttggcctccc aaagggctgg gattacaggt gtgagccacc
Feature /change: gtgtccggcc tcgctcaggc tggtttcaaa cttctggcct
Feature /change: caaactatcc tcccaccttg gcctcccaaa gtgctgggat
Feature /change: tagtcatgag cacccagctg aacttgaggg tctcgatcac
Feature /change: cccttgcaga ccctggagaa ggctgggtgg gcaccagcca
Feature /change: agtgcttatg gtgtattgga ttcatccatg ggaagctgcc
Feature /change: cctcacatgt agcagcagct gaactctcat caagcaggga
Feature /change: tgactgtctc cattccacag atgaggaaac taaggcctgg
Feature /change: aggggggatc tgatgaggga caggaaagcc cacaaaacag
Feature /change: ggtttagcca ggagggtttt tggctttccc caggaaagag
Feature /change: ttcaagtgca tgtcggtggt gttagacaga aacttttact
Feature /change: gaagtggccg tgtagagcag cagcagaagt cctgctcctt
Feature /change: gcagagtggg gacgccccac aggcagggca gctacgtctc
Feature /change: atatttatac ccgcttttaa ttatatgcaa atgaaggggc
Feature /change: ggtttatgca gaaatatcta ggatgaaggt agtaacttcc
Feature /change: gggttgtggg atcattgccg tggacagggg cggtaatttc
Feature /change: cgggtgttgc catggtaatg gtaaactgac atggcacact
Feature /change: ggtgggcgtg tcttatggaa agcccaggac ctgctttagc
Feature /change: tagtcctcag tttggtcctg tgtccaagcc ctgcctccag
Feature /change: agtccaatcc tgcctccaac ctcagatcca cctgcccaaa
Feature /change: gatccaacaa gtcagccgga cgcggtggct cacgcctgta
Feature /change: atcccagcac tttgggaggc tgaggcgggc ggatcacttg
Feature /change: aggccaggag ttcaagacca gcctggccaa catggtgaaa
Feature /change: cctcatgtgt attaaaaata caaaaaatta gctggctatg
Feature /change: gtggtgggcg cctgtaatcc cggctactca ggaggctgag
Feature /change: gcacaagaat cgcttgaacc tgggaggtgg aggttgcagt
Feature /change: gagctgagat tgtgccactg cactccagcc tgggcaacag
Feature /change: agtgagactc catctcaaaa aaaaaaaaaa tcttgagatg
Feature /change: aatgggcgca ttaagagaag agattttagg ttgggcttgg
Feature /change: tggctcacac ctgtaatccc agcactttgg gaggccgagg
Feature /change: tgggcagatc acgaggtcag gagatcgaga ccatcctggc
Feature /change: taacacagtg aaaccccgtc tctactacaa atacaaaaaa
Feature /change: ttagctgggc gtggtggcgg gcgcctgtag tctcagctac
Feature /change: tcgggaggct gaggcaggag aatggtgtga acccaggagg
Feature /change: cagagcttgc agtgagccga gatggcgcca ctacactcca
Feature /change: gcctgggcga cagagcaaga ctccgtctca aaaaaaaaaa
Feature /change: aaaaaaaaga aagaaagagt agagatttta gcaaaatgcc
Feature /change: tatgaatccc caccccaccc acaggctgtg gtagcccagc
Feature /change: ctggcctctg aggagtaaag aggtcccagg actcagggtt
Feature /change: gcctctccca ctgcagagca tcccgtgcag cccacagaga
Feature /change: cccaagttac cctcagtggc ctgcgggctg gtgtagccta
Feature /change: cacggtgcag gtgcgagcag acacagcgtg gctgaggggt
Feature /change: gtctggagcc agccccagcg cttcagcatc ggtgagtgga
Feature /change: gggggtagga cccagttatt tacccagcat gcactgcact
Feature /change: gcgcttccca caatgatctt agcagccctg ccctcactct
Feature /change: cactccctct atggctccct actgccctca ggagaaagta
Feature /change: gcagctcaaa ctgctcccat tgccttctct cgcagcttcc
Feature /change: tctcacactc caggagcctt gcccatgcag gcccttccct
Feature /change: gcctcctgcc tggaatgttt gttttccaca cggtccaact
Feature /change: cctattcgtc cttcaaaact cagctcaaaa gttccctcct
Feature /change: ccagcaagac ttctctgcct ccttctggcc atgcccttgt
Feature /change: ttacaactgt cccttctccc tggtctgaca ctgcggggtt
Feature /change: ggggtagatg tgtcaaggta tctgggggct cttggggagg
Feature /change: aggaagatgc aggaatctgt tcattgagcg acaaataaat
Feature /change: gaatgcaaaa ataaggagga cacaggcaaa acccggtgtg
Feature /change: gtggctcaca cctgtaatcc cagcactttg ggaggctgag
Feature /change: gctggaggat tgcttgagcc gaggagttca agaccagcct
Feature /change: gggcaacatg gtgagacctc atctctacaa aaaatatttt
Feature /change: taaaatagtg gggtgtggtg gtgcacacct gtagtctcag
Feature /change: ctgctc
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0048: 765..1682
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag
Feature /change: cagccaaccc agctggagct tccagaaggc tgtcaagggc
Feature /change: tggcgcctgg cacggaggtc acttaccgac tacagctcca
Feature /change: catgctgtcc tgcccgtgta aggccaaggc caccaggacc
Feature /change: ctgcacctgg ggaagatgcc ctatctctcg ggtgctgcct
Feature /change: acaacgtggc tgtcatctcc tcgaaccaat ttggtcctgg
Feature /change: cctgaaccag acgtggcaca ttcctgccga cacccacaca
Feature /change: gaaccagtgg ctctgaatat cagcgtcgga accaacggga
Feature /change: ccaccatgta ttggccagcc cgggctcaga gcatgacgta
Feature /change: ttgcattgaa tggcagcctg tgggccagga cgggggcctt
Feature /change: gccacctgca gcctgactgc gccgcaagac ccggatccgg
Feature /change: ctggaatggc aacctacagc tggagtcgag agtctggggc
Feature /change: aatggggcag gaaaagtgtt actacattac catctttgcc
Feature /change: tctgcgcacc ccgagaagct caccttgtgg tctacggtcc
Feature /change: tgtccaccta ccactttggg ggcaatgcct cagcagctgg
Feature /change: gacaccgcac cacgtctcgg tgaagaatca tagcttggac
Feature /change: tctgtgtctg tggactgggc accatccctg ctgagcacct
Feature /change: gtcccggcgt cctaaaggag tatgttgtcc gctgccgaga
Feature /change: tgaagacagc aaacaggtgt cagagcatcc cgtgcagccc
Feature /change: acagagaccc aagttaccct cagtggcctg cgggctggtg
Feature /change: tagcctacac ggtgcaggtg cgagcagaca cagcgtggct
Feature /change: gaggggtgtc tggagccagc cccagcgctt cagcatcg
Feature /note: skipping of exons 8-13
Feature /inexloc: +363
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..540
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQPT QLELPEGCQG
Feature /change: LAPGTEVTYR LQLHMLSCPC KAKATRTLHL GKMPYLSGAA
Feature /change: YNVAVISSNQ FGPGLNQTWH IPADTHTEPV ALNISVGTNG
Feature /change: TTMYWPARAQ SMTYCIEWQP VGQDGGLATC SLTAPQDPDP
Feature /change: AGMATYSWSR ESGAMGQEKC YYITIFASAH PEKLTLWSTV
Feature /change: LSTYHFGGNA SAAGTPHHVS VKNHSLDSVS VDWAPSLLST
Feature /change: CPGVLKEYVV RCRDEDSKQV SEHPVQPTET QVTLSGLRAG
Feature /change: VAYTVQVRAD TAWLRGVWSQ PQRFSIE
Feature /change: ->
Feature /change: E
Feature /domain: FNT3-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0048: 12502..24667
Feature /change: -tgggaggctg aggcaggaga atcccttgaa cccgggaggt
Feature /change: ggaggttgca gggatccaag atcacaccac tgcactccag
Feature /change: cctgggtgac agggccagac tctgtctcaa aaaaaagtaa
Feature /change: aaaaaaaaaa aaaagtaata ataaaataaa atggaaaaag
Feature /change: aaataaggca gcaggtatta gaaacaaggt ggtgagtgtt
Feature /change: agaaataagg cagagggaga aatgggtgct caaaccctga
Feature /change: caatgtggca tccggtcttg ctgcacccac tttagggttt
Feature /change: tttgctgctg ttttttttgt ttgtttgttt gttgtttttt
Feature /change: gttgtttttt tttttgagac ggagtctcac tctgtcaccc
Feature /change: aggctggagt gcagtggcgc catctcggct cactgcaagc
Feature /change: tccgcctccc gggttcacgc cattgtcctg cctcagcctc
Feature /change: ccaagtagct gggactacag gtgtctgcaa ccacgcccgg
Feature /change: ttaatttttt gtatttttta gtagagacgg ggtttcacca
Feature /change: tgttagccag gatggtctca atctcctgac ctcgtgatct
Feature /change: gccctcctcg gcctcccaaa gtgctgggat tacaggcgtg
Feature /change: agccaccgcg cccggcctac tgctattttt tgttttgttt
Feature /change: tgagactgtc ttgctctgtc accctggctg gagtgcagtg
Feature /change: gtgtgatctt ggctcactgc aacctccgcc tcacgggttc
Feature /change: aagcgattct cctgcctcag cctccagagt agctgggatt
Feature /change: tacaggcatg caccaccacg cccagctaat tttgtatttt
Feature /change: tagtagagat ggggtttcgc catgtttgcc cggctggtct
Feature /change: cgaactcctg gcctcaagtg atcctcccac cacggtctcc
Feature /change: caaagtgcta gaattccagg tatgagccac tgcgctcagc
Feature /change: ccactacagg gctttatcaa gtgagaatca tcaggctgaa
Feature /change: cctcacggtg tctcaaggac aatgtcacct gcaggtggca
Feature /change: gggtgtacta aacagctgct gccctgagcc tgggcaacag
Feature /change: gaaaatgagt gagagggttt caaaccatgc agaaaggcct
Feature /change: ggcgctgtgg tttatgcctg taatcccagc actttgggag
Feature /change: gccgaggcca gaggattgtt tgaggccagg agtttgagac
Feature /change: aagcctggga atcaaaacga gactctgtct ctagtctata
Feature /change: aaacaacagc aacaacaaca aaaccatgca gagaaataca
Feature /change: tttgcattca aaaaggaact tagaggccag gcgcagtggc
Feature /change: tcacgcctat aattccagca gtttgggagg ccgaggcaag
Feature /change: tggatcacaa ggtcaggagt tcaagaacag cctgaccaac
Feature /change: atggtgaaac cccgtctcta ctaaaaatac aaaaattagc
Feature /change: cggacatggt ggtgcatgcc tgtaatccca gctacttgga
Feature /change: aggctgaggc aggagaatcg cttgaaccca gaaggcagag
Feature /change: attgcagtga gccgagatcg caccagtgca ctccagccta
Feature /change: ggtaatagag tgagacttcg tctcaaaaag caaacgaaca
Feature /change: aacaaacaaa caaaaaacct taggcaacat gagattacag
Feature /change: gtggcagtta tccctgggga tgcaaattgt gttaattttt
Feature /change: cttccttcag ttttttctct tttctgcaat ttggggcagc
Feature /change: aagggatttt cactttgtaa atgtggagaa tccatcattt
Feature /change: acaaagaaaa catccatcag tctttctctc cttccaattc
Feature /change: gtctagttgg tttggttctg attgcagaaa accccccaca
Feature /change: gcctcaggtg agattctcgg tggagcagct gggccaggat
Feature /change: gggaggaggc ggctgaccct gaaagagcag gtaacggggc
Feature /change: tgtcacaggg ctgtggggtg gcctgggatg gggagcagga
Feature /change: ggcaaaagcc taggcggggg atgagcaagt ggtagatgga
Feature /change: gggagatgag atgtagaggt ggcaggaagt gggcaaattg
Feature /change: tgggtttaac tctgaaggta atagggagcc atggagtgtg
Feature /change: tgtgtgagca ggagaggcac atgactggac tcagatgttc
Feature /change: acagactttc cctggctcct gtgtgagaaa cagagtgtgg
Feature /change: gggaattgca cagaagccag aaggccagga aggagataat
Feature /change: ggtgactgca tttgcctggg tagcagatta ttgctttaag
Feature /change: tcccaaaaca acccattaag tgcagtctga ttagtttaca
Feature /change: gagagggaaa ctgaggcata gagggagtat ctctgttgag
Feature /change: acaaaactga caaatactcc actcgttgac tttaccatag
Feature /change: tcatcttagt caggtcccta atgggctgtt actataaggc
Feature /change: tgtagcaaaa atcctttatt tcctatgttc ctctaactca
Feature /change: aattcctctt cttttttttc cttttttttt tttttttttt
Feature /change: gagatggagt cttgctctgt cgcccaggct ggagtgcagt
Feature /change: ggcgccatct cggctcacta caagctccgc ctcccgggtt
Feature /change: cacgccattc tcctgcctca gcctcccgag tagctgggac
Feature /change: tacaggcgcc caccaccatg ccgggctaat tttttgtatt
Feature /change: tttagtagag acggggtttc accgtgttag ccaggatggt
Feature /change: ctcaatctcc tgacctcatg atctacccgt ctcggcctcc
Feature /change: caaagtgctg ggattagagg cgtgagcccc cgtgcccggc
Feature /change: ctctcaaatt ccttttctaa ggaaaaattt tctgcttgag
Feature /change: gtaactgggt taaaagatgg aaacattttt gttttcctga
Feature /change: atgtcagtgg gttttgtcaa tttcccacct ccctcaagct
Feature /change: agatgtgtgc gggaggtgaa tgcctgtctc acagcagctt
Feature /change: tgccagcatt gaggtttatt attcttttaa tttttgatgc
Feature /change: atgttattgg ctgtggcctt tgtccaagtc tgtcttcata
Feature /change: ggctgtgccc tgctgtctgc ctatgggatg atgagtgtga
Feature /change: tcaggtaccc acaagctgtc tttcatactc ctgacagcca
Feature /change: acccagctgg agcttccaga aggctgtcaa gggctggcgc
Feature /change: ctggcacgga ggtcacttac cgactacagc tccacatgct
Feature /change: gtcctgcccg tgtaaggcca aggccaccag gaccctgcac
Feature /change: ctggggaaga tgccctatct ctcgggtgct gcctacaacg
Feature /change: tggctgtcat ctcctcgaac caatttggtc ctggcctgaa
Feature /change: ccagacgtgg cacattcctg ccgacaccca cacaggtgcc
Feature /change: tcctctgggt ggggagggcg gtatgagggc ccctcagagc
Feature /change: tgagcaccta ctctgagcct cagctagacc agggtgagag
Feature /change: gagcgaggca gaaaatttta aaggagtgcc tgatttaggg
Feature /change: gtgtatcaaa aattcagtaa tcagccaggc acggtggctc
Feature /change: acacctgtaa tcccagcact ttgggaggct aagacaggtg
Feature /change: aatcacctga ggtcagcagt tcgagaccag tctggccaac
Feature /change: gtggtgaaac ccagtctcta ctaaaaatac aaaaattagc
Feature /change: tgagtgtggt ggctgtagtc ccagctactt gggaggctga
Feature /change: ggcaggagaa tcgcttgaac ccaggagcca gaggttgcag
Feature /change: tgagccaaaa ttgtgccatt gcactccagc ctgggcaaca
Feature /change: aagagcaaga ctgtgtcaaa aaaaaaaaat tcaataatca
Feature /change: agatccataa tgcagttttt tgttgttgtt ggtttgtttt
Feature /change: ttttaagaga cagagttttg ctatgttgcc caggctggac
Feature /change: ttgaacttct gggctcaagc aatctttctc cctcagcctc
Feature /change: ccaaatagct gggaatatag gcatgtgcca tcatacctgg
Feature /change: ctattatgca ttattaaaga acaacaacaa aaactagctg
Feature /change: agccactgcg ctccaccctg gttgatagag ctacactctt
Feature /change: tttcaaaaaa gaaaaaagag agaaagaaag aaaaaaggct
Feature /change: agagttgacc ctgtgtttat ttaagatcta atttcttttt
Feature /change: tttcttgtga cagatggcat gatctcagct cactgcaacc
Feature /change: tccgccttcc agattcaaga gattctcctg cttcagcctc
Feature /change: ccgagtagct gggattacag gcatctgcca ccatacccgg
Feature /change: ctaattttgt atttttagta gagacggggt ttcaccacgt
Feature /change: tggccaggct ggtctcgaac tcctgacctc aagtgatcca
Feature /change: cctgccttgg cctcccaaag tgttgggatt ataggcgtga
Feature /change: gccaccatgc ccagcctaat ttttgtattt ttagtagaga
Feature /change: tggagtttca ccatgttgcc caggctggtc tcaaactcct
Feature /change: gccctcaggt gatccaccca cctcagcctc tcaaagtgct
Feature /change: gggattacag gtgtgagcca ctgtggccga cctactattt
Feature /change: ttattatttt tgagctaggt tctcagtctg ttggcagact
Feature /change: ggagtgcaat catggctcac tgcagccttg aactcccaga
Feature /change: ctcaagtgat ccttccacct cagcctctgg agtagctggg
Feature /change: actacagaca tgcaccacca cacctggtta attttttatt
Feature /change: tttatttttt gtagagacag gtgtctctct acgttgccca
Feature /change: ggctggtctc gaactcctgg gctcaagtga tccacccatc
Feature /change: tccacctccc aaagtgctag gattacaggc gtgagccacc
Feature /change: gtacccagcc tggtcccata tcatagtgaa atggtgcctg
Feature /change: taaagctctc agcattggct tggcacatgc agttggtact
Feature /change: caataaacgg ctgttgctat ccccagaatt gcaagcagta
Feature /change: tccatctctc tgacattcat gaagacgccc tggcgggagg
Feature /change: gagtgggaga gatttgccca gggactgagt gggtgtgtgc
Feature /change: tcgtgcttct gagtttggca tgagaccacc agtggcgccg
Feature /change: gtcaggccag ggaggcctag tcttgcatca cactctccgc
Feature /change: ctaggctagg caagtggtgg gcagccaggt atctgccaca
Feature /change: gccggagacg cctacaaggc tggaagtggg tgtaatggca
Feature /change: gtacaggaag ctctcatggt gaatatcctg gcaaggagac
Feature /change: agcagttagg ctggaggagg actcagctca ttcaaacacc
Feature /change: acctgctgac tggatgcggc ggattatgcc tgtaatccca
Feature /change: gcactttggg aagccaaggc aggtggatca ctggaggtca
Feature /change: ggagttcgag accagcctgg gcaacacggt gaaaccccat
Feature /change: ctccaccaaa aaataataat aaattagcca ggaaatggtg
Feature /change: gcgcatgcct gtggtcccag ctactcagga ggctgaggca
Feature /change: ggagactcat ttgaacccgg gaggctgagg ttgcagggag
Feature /change: ccgagatcat gccactgcac tccagcctgg gcgacagagc
Feature /change: aagaatccgt ctccaaagaa aaaacaaaaa aaaacaaacg
Feature /change: ccatctgcta cccactttgt gcctggcccc aaggcagcct
Feature /change: ccagtgcagg gaaacagcca aacacagaca cccctggccc
Feature /change: tgtagggtca ggggtataga cgagagggtg ggagagaggc
Feature /change: tgcaggagcc agagaagggg actggggaga gagatggcaa
Feature /change: ctgtctcgat gcgtctctcc cctctccttc cagaaccagt
Feature /change: ggctctgaat atcagcgtcg gaaccaacgg gaccaccatg
Feature /change: tattggccag cccgggctca gagcatgacg tattgcattg
Feature /change: aatggcagcc tgtgggccag gacgggggcc ttgccacctg
Feature /change: cagcctgact gcgccgcaag acccggatcc ggctggaatg
Feature /change: ggtaatggcc tggaatggcc tgcgcctacc cctcctctgt
Feature /change: gccctccctt ttaggtcctg gtgggttcaa acctgcaggg
Feature /change: aaggcacaca gcgggtgtct aaggcccaga gaggtgttgc
Feature /change: tgcttactca atgtcataca gaggtaggga cagggtgagg
Feature /change: ttcggagcct ctcacccata tgggtctgga acctcttgct
Feature /change: ggcatcctga gctcagttcc aggcagatca cacacataca
Feature /change: ggtaatgaat ctcacatccc aaggtgtttg ttaaatattc
Feature /change: aaccgcgcca gggaaggtgg cagttcgcga gatgctggtg
Feature /change: gcaaattaat gagcagtctt tagggaaagg ggggccgtga
Feature /change: ggctcaggtg gcctctcact ctcccgcttc ctgctctggg
Feature /change: ccttgccaga gccccagaaa gcctcagcct cagcctgttc
Feature /change: cttgaagaat acacagcctg aggagacaga actggacacg
Feature /change: gaacccctga ccccattgtc cgggcaaggt ggctaacacc
Feature /change: tgtaatccca gcactttggg aggctgaggc aggtggatca
Feature /change: acagaggtca ggagttcgag accagcctgg ccaacatgga
Feature /change: gaaaccctgt ctctactaaa aatataaaaa ttagccaggc
Feature /change: atgatggtgt gcacctgtaa atcccagcta ctcaggaggc
Feature /change: tgagacagga gaatcgcttg aacccgggag gcagggattg
Feature /change: cagtgagtca agattgcgct attgcactcc agcctgggtg
Feature /change: acacagcgag actccatctc aaaaaaaaaa aaaaaagaag
Feature /change: ccctggttcc atggagtaag ggctgggtta gagggggatg
Feature /change: gggatggggt tgggggtgtt gcatagggaa gagatcttgg
Feature /change: aggaggggat attggtgcaa gggctttgaa acatgagtag
Feature /change: gagttttctg ggggttcctg gcagatggca cagccagtgc
Feature /change: aaaggtgcag aggtgggaac acaatctact gaatggcctg
Feature /change: gcctttgctt atccttccag caacctacag ctggagtcga
Feature /change: gagtctgggg caatggggca ggaaaagtgt tactacatta
Feature /change: ccatctttgc ctctgcgcac cccgagaagc tcaccttgtg
Feature /change: gtctacggtc ctgtccacct accactttgg gggcaatggt
Feature /change: aagtgaccca aacctgcagg tttacattat tttttctttt
Feature /change: taaataattt aaaaaaatag aggctgggca cagtgactca
Feature /change: cgcatgtaat cccagcactt tgggaggcca aggtgggtgg
Feature /change: atcacctgag gtcaggagtt tgaaaccagc ctggccaatg
Feature /change: tggcgaaacc ctgtctctac taaaaataca aaaattagcc
Feature /change: gggtgtggtg gcgggtgcct gtaattccag atacttggga
Feature /change: ggctgaggca ggagaatcgc ttgaacccag gaggcggagg
Feature /change: ttgcagtgag ctgagatcat gccactgtac tccagtctgg
Feature /change: gtgacagagc aagactctgt ctcaaaaaaa aaaaaaaaaa
Feature /change: aaaaaaaaag gacaatgctg ttaaggcaga cagaatggct
Feature /change: cacccctgta atcccagcac tttggcactt tgggaggctg
Feature /change: aggcttgtgg atcacttgaa cccaggagtt caagaacagc
Feature /change: ctgggcaaca tagcaagacc ccgtctctac agaaagaaaa
Feature /change: aagtttgcca gccatggtgg catgtgcctg tagtcccaac
Feature /change: tactcaggag gctgaggtgg taagatcact tgatcccagg
Feature /change: agtttgaggc tgcagtgagc tatgattgca ccactgcaat
Feature /change: catacaacct ctgcctcccg ggttcaagcc attctccttc
Feature /change: ctcagcctcc tgagtagctg ggattatagg tgtgcactac
Feature /change: catgcctgga taattttttg tatctttagt agagacaggg
Feature /change: ttttagcatg ttggccaggc tggtctcaaa tgcctaacct
Feature /change: cgtgatccac ctgccttggc ctcccaaagt gccgggatta
Feature /change: caggtgtgag ccactgcgcc cggccagcat tgtccatttt
Feature /change: atagataaga aaactgaggc ccagggaagg gaaatgacag
Feature /change: tgactgagtg gcagaaccag aattaaaacc cagctcacct
Feature /change: gactctgtgg ccaatgttac ctccgtctct ggacagtggg
Feature /change: aggctgggca ttcaggaagt gctcaaccag cactcctttt
Feature /change: tttttttttt tttttttttt cttgagacag agtcactctc
Feature /change: tgtggcccag gctggagtgc agtggcacga tcttggctca
Feature /change: ctgaaacctc tgcatcccgg gttcaagcga ttctcgtgcc
Feature /change: tcagcctgcc gagtagctgg gattacaggc gcccaccatc
Feature /change: atgcctggct aatttttgta gttttagtag aaacagggtt
Feature /change: tccccatgtt cctcaggcta gtctcgaact cctgacctta
Feature /change: agtgatctac ccaccttggc ctcccaatat gctgggattg
Feature /change: caggcatgag ccatcgtggc tgggcttttt ttttttttta
Feature /change: aagacagggt cttgctctgt tgcccaggct ggagtgcagt
Feature /change: ggtgccatct tggctcactg caacctctgc ctcctgggct
Feature /change: caagtgattc tcctgcctca gcctcctgag tagctgggat
Feature /change: tacaggtgtc cgccaccatg cctggctaat ttttgtattt
Feature /change: ttagtagaga aggggttttg ccatgttggc caggctggtc
Feature /change: ttgaactcct ggcctcaaat gacttaccca cctcggcctc
Feature /change: ccaaagtgct gggattacag gtgcgagcca ctgtgccagg
Feature /change: cctcgaccag cattcttggt gttgactatg acaatggtac
Feature /change: tggttgcagc ctcagcagct gggacaccgc accacgtctc
Feature /change: ggtgaagaat catagcttgg actctgtgtc tgtggactgg
Feature /change: gcaccatccc tgctgagcac ctgtcccggc gtcctaaagg
Feature /change: agtatgttgt ccgctgccga gatgaagaca gcaaacaggt
Feature /change: gtcaggtacg tgaggcagtg cagacctggc ttggggagga
Feature /change: agggaggatc ctggcctgtg atctctcttg ctgtgtgacc
Feature /change: ctgggcacct tgccgtcctt ctctgggcct tggttatcaa
Feature /change: acccttaaaa caagagaatt ggctgggcgc agtggctcac
Feature /change: gcctgtaatc ccagcacttt gggaggccaa ggcgggcgga
Feature /change: tcacctgagg tcaggagttc aagaccagcc tgacaaactt
Feature /change: ggagaaaccc cgtctctcct aaaaatacaa aattagccgg
Feature /change: gcatggtggc acatgcctgt aattctagct acacgggagg
Feature /change: ctgaggcagg agaatcgctt gaacccagga ggcggagatt
Feature /change: gcagtgagcc gagattgtac cagtgcactc cagcctgggt
Feature /change: gacagagtga gactctgtct cagaaaaaac aaaaacgaaa
Feature /change: acaaacaaac aaaaaacaaa aacaagagaa ttagacttga
Feature /change: gggtcttttt tttttttttt ttaattttat agacagggac
Feature /change: tcactctgtg cccaggctgg agtgcagtgg tgccatcata
Feature /change: gctcacagca gcctcaacct cctgggctca agcgatcctc
Feature /change: ccacctcagc ctccctagta gctggaaaca caggtgcaca
Feature /change: ccaccatgca cagttaatat tttatttttt gtagaaatga
Feature /change: ggccttgcta tattgcccag gctgggattt tttctttttt
Feature /change: ttctttttga gagggagtct gtctctgtca cccaggctgg
Feature /change: agtgcagtgg cgccatctca gctcactgca acctctgcct
Feature /change: cccgggttca ggcaattctc ttgcctcagc ctcccaagta
Feature /change: gctgggatta caggcaccca ccaccatgcc tggcaaattt
Feature /change: ttgtattttt agcagagacg gagtttcacc atgttgacca
Feature /change: ggctggtctc aaactcttga cctcaggtga atcacccgcc
Feature /change: ttggcctccc aaagggctgg gattacaggt gtgagccacc
Feature /change: gtgtccggcc tcgctcaggc tggtttcaaa cttctggcct
Feature /change: caaactatcc tcccaccttg gcctcccaaa gtgctgggat
Feature /change: tagtcatgag cacccagctg aacttgaggg tctcgatcac
Feature /change: cccttgcaga ccctggagaa ggctgggtgg gcaccagcca
Feature /change: agtgcttatg gtgtattgga ttcatccatg ggaagctgcc
Feature /change: cctcacatgt agcagcagct gaactctcat caagcaggga
Feature /change: tgactgtctc cattccacag atgaggaaac taaggcctgg
Feature /change: aggggggatc tgatgaggga caggaaagcc cacaaaacag
Feature /change: ggtttagcca ggagggtttt tggctttccc caggaaagag
Feature /change: ttcaagtgca tgtcggtggt gttagacaga aacttttact
Feature /change: gaagtggccg tgtagagcag cagcagaagt cctgctcctt
Feature /change: gcagagtggg gacgccccac aggcagggca gctacgtctc
Feature /change: atatttatac ccgcttttaa ttatatgcaa atgaaggggc
Feature /change: ggtttatgca gaaatatcta ggatgaaggt agtaacttcc
Feature /change: gggttgtggg atcattgccg tggacagggg cggtaatttc
Feature /change: cgggtgttgc catggtaatg gtaaactgac atggcacact
Feature /change: ggtgggcgtg tcttatggaa agcccaggac ctgctttagc
Feature /change: tagtcctcag tttggtcctg tgtccaagcc ctgcctccag
Feature /change: agtccaatcc tgcctccaac ctcagatcca cctgcccaaa
Feature /change: gatccaacaa gtcagccgga cgcggtggct cacgcctgta
Feature /change: atcccagcac tttgggaggc tgaggcgggc ggatcacttg
Feature /change: aggccaggag ttcaagacca gcctggccaa catggtgaaa
Feature /change: cctcatgtgt attaaaaata caaaaaatta gctggctatg
Feature /change: gtggtgggcg cctgtaatcc cggctactca ggaggctgag
Feature /change: gcacaagaat cgcttgaacc tgggaggtgg aggttgcagt
Feature /change: gagctgagat tgtgccactg cactccagcc tgggcaacag
Feature /change: agtgagactc catctcaaaa aaaaaaaaaa tcttgagatg
Feature /change: aatgggcgca ttaagagaag agattttagg ttgggcttgg
Feature /change: tggctcacac ctgtaatccc agcactttgg gaggccgagg
Feature /change: tgggcagatc acgaggtcag gagatcgaga ccatcctggc
Feature /change: taacacagtg aaaccccgtc tctactacaa atacaaaaaa
Feature /change: ttagctgggc gtggtggcgg gcgcctgtag tctcagctac
Feature /change: tcgggaggct gaggcaggag aatggtgtga acccaggagg
Feature /change: cagagcttgc agtgagccga gatggcgcca ctacactcca
Feature /change: gcctgggcga cagagcaaga ctccgtctca aaaaaaaaaa
Feature /change: aaaaaaaaga aagaaagagt agagatttta gcaaaatgcc
Feature /change: tatgaatccc caccccaccc acaggctgtg gtagcccagc
Feature /change: ctggcctctg aggagtaaag aggtcccagg actcagggtt
Feature /change: gcctctccca ctgcagagca tcccgtgcag cccacagaga
Feature /change: cccaagttac cctcagtggc ctgcgggctg gtgtagccta
Feature /change: cacggtgcag gtgcgagcag acacagcgtg gctgaggggt
Feature /change: gtctggagcc agccccagcg cttcagcatc ggtgagtgga
Feature /change: gggggtagga cccagttatt tacccagcat gcactgcact
Feature /change: gcgcttccca caatgatctt agcagccctg ccctcactct
Feature /change: cactccctct atggctccct actgccctca ggagaaagta
Feature /change: gcagctcaaa ctgctcccat tgccttctct cgcagcttcc
Feature /change: tctcacactc caggagcctt gcccatgcag gcccttccct
Feature /change: gcctcctgcc tggaatgttt gttttccaca cggtccaact
Feature /change: cctattcgtc cttcaaaact cagctcaaaa gttccctcct
Feature /change: ccagcaagac ttctctgcct ccttctggcc atgcccttgt
Feature /change: ttacaactgt cccttctccc tggtctgaca ctgcggggtt
Feature /change: ggggtagatg tgtcaaggta tctgggggct cttggggagg
Feature /change: aggaagatgc aggaatctgt tcattgagcg acaaataaat
Feature /change: gaatgcaaaa ataaggagga cacaggcaaa acccggtgtg
Feature /change: gtggctcaca cctgtaatcc cagcactttg ggaggctgag
Feature /change: gctggaggat tgcttgagcc gaggagttca agaccagcct
Feature /change: gggcaacatg gtgagacctc atctctacaa aaaatatttt
Feature /change: taaaatagtg gggtgtggtg gtgcacacct gtagtctcag
Feature /change: ctgctc
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0048: 765..1682
Feature /change: -aaaacccccc acagcctcag gtgagattct cggtggagca
Feature /change: gctgggccag gatgggagga ggcggctgac cctgaaagag
Feature /change: cagccaaccc agctggagct tccagaaggc tgtcaagggc
Feature /change: tggcgcctgg cacggaggtc acttaccgac tacagctcca
Feature /change: catgctgtcc tgcccgtgta aggccaaggc caccaggacc
Feature /change: ctgcacctgg ggaagatgcc ctatctctcg ggtgctgcct
Feature /change: acaacgtggc tgtcatctcc tcgaaccaat ttggtcctgg
Feature /change: cctgaaccag acgtggcaca ttcctgccga cacccacaca
Feature /change: gaaccagtgg ctctgaatat cagcgtcgga accaacggga
Feature /change: ccaccatgta ttggccagcc cgggctcaga gcatgacgta
Feature /change: ttgcattgaa tggcagcctg tgggccagga cgggggcctt
Feature /change: gccacctgca gcctgactgc gccgcaagac ccggatccgg
Feature /change: ctggaatggc aacctacagc tggagtcgag agtctggggc
Feature /change: aatggggcag gaaaagtgtt actacattac catctttgcc
Feature /change: tctgcgcacc ccgagaagct caccttgtgg tctacggtcc
Feature /change: tgtccaccta ccactttggg ggcaatgcct cagcagctgg
Feature /change: gacaccgcac cacgtctcgg tgaagaatca tagcttggac
Feature /change: tctgtgtctg tggactgggc accatccctg ctgagcacct
Feature /change: gtcccggcgt cctaaaggag tatgttgtcc gctgccgaga
Feature /change: tgaagacagc aaacaggtgt cagagcatcc cgtgcagccc
Feature /change: acagagaccc aagttaccct cagtggcctg cgggctggtg
Feature /change: tagcctacac ggtgcaggtg cgagcagaca cagcgtggct
Feature /change: gaggggtgtc tggagccagc cccagcgctt cagcatcg
Feature /note: skipping of exons 8-13
Feature /inexloc: +363
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P42701; I12R1_HUMAN: 234..540
Feature /change: ENPPQPQVRF SVEQLGQDGR RRLTLKEQPT QLELPEGCQG
Feature /change: LAPGTEVTYR LQLHMLSCPC KAKATRTLHL GKMPYLSGAA
Feature /change: YNVAVISSNQ FGPGLNQTWH IPADTHTEPV ALNISVGTNG
Feature /change: TTMYWPARAQ SMTYCIEWQP VGQDGGLATC SLTAPQDPDP
Feature /change: AGMATYSWSR ESGAMGQEKC YYITIFASAH PEKLTLWSTV
Feature /change: LSTYHFGGNA SAAGTPHHVS VKNHSLDSVS VDWAPSLLST
Feature /change: CPGVLKEYVV RCRDEDSKQV SEHPVQPTET QVTLSGLRAG
Feature /change: VAYTVQVRAD TAWLRGVWSQ PQRFSIE
Feature /change: ->
Feature /change: E
Feature /domain: FNT3-2
Protein exp. no IL-12RB1 expression on the surface of cells
Symptoms Salmonella group D
Age 4
Sex XY
Ethnic origin Caucasoid; Israel
Comment not vaccinated with BCG
//
ID Deletion(2),Deletion(2); standard; MUTATION; FNT3-2,FNT3-2
Accession I0051
Systematic name Allele 1 and 2: g.10290_10306delGTATGGAGTGGGAGACC,
Systematic name c.410_549del, r.410_549del, p.Val137fsX8
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon in the FNT3-2 domain
Date 02-Apr-2007 (Rel. 1, Created)
Date 02-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16418797
RefAuthors Sanal, O., Turul, T., De Boer, T., Van de Vosse, E.,
RefAuthors Yalcin, I., Tezcan, I., Sun, C., Memis, L., Ottenhoff, T.
RefAuthors H., Ersoy, F.
RefTitle Presentation of interleukin-12/-23 receptor beta1
RefTitle deficiency with various clinical symptoms of salmonella
RefTitle infections.
RefLoc J Clin Immunol:1-6 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0048: 10290..10306
Feature /change: -gtatggagtg ggagacc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 474..613
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg
Feature /note: skipping of exon 5
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..183
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKL
Feature /change: ->
Feature /change: GRLRTSGX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0048: 10290..10306
Feature /change: -gtatggagtg ggagacc
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0048: 474..613
Feature /change: -ttaaatatga gcctcctctg ggagacatca aggtgtccaa
Feature /change: gttggccggg cagctgcgta tggagtggga gaccccggat
Feature /change: aaccaggttg gtgctgaggt gcagttccgg caccggacac
Feature /change: ccagcagccc atggaagttg
Feature /note: skipping of exon 5
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42701; I12R1_HUMAN: 137..183
Feature /change: VKYEPPLGDI KVSKLAGQLR MEWETPDNQV GAEVQFRHRT
Feature /change: PSSPWKL
Feature /change: ->
Feature /change: GRLRTSGX
Feature /domain: EC
//
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