Database IGHMbase
Version 1.1
File ighmpub.html
Date 21-Aug-2008
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/IGHMbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF26.html
Gene IGHM
Disease mu heavy-chain deficiency
OMIM 147020
GDB 120086
Sequence EMBL:X57331; EMBL:X17115; UniProt:P01871
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #T400X402(1a),#T400X402(1a); standard; MUTATION; CH4,CH4
Accession I0019
Systematic name Allele 1 and 2: g.1217delA, c.1198delA, r.1198dela,
Systematic name p.Thr400fsX3
Original code P21
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the CH4 domain
Date 05-Jun-2008 (Rel. 1, Created)
Date 05-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17410177
RefAuthors Ferrari, S., Zuntini, R., Lougaris, V., Soresina, A.,
RefAuthors Sourkova, V., Fiorini, M., Martino, S., Rossi, P.,
RefAuthors Pietrogrande, M. C., Martire, B., Spadaro, G., Cardinale,
RefAuthors F., Cossu, F., Pierani, P., Quinti, I., Rossi, C.,
RefAuthors Plebani, A.
RefTitle Molecular analysis of the pre-BCR complex in a large
RefTitle cohort of patients affected by autosomal-recessive
RefTitle agammaglobulinemia.
RefLoc Genes Immun:325-333 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: X57331: 1217
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X17115; GI:127514; : 1270
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P01871; MUC_HUMAN: 400
Feature /change: T -> QTX
Feature /domain: CH4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: X57331: 1217
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: X17115; GI:127514; : 1270
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P01871; MUC_HUMAN: 400
Feature /change: T -> QTX
Feature /domain: CH4
Sex XY
Relative IGHMbase; I0020sister
Relative Other affected family members: Yes; phenotype:same
Parents
IgA <6.5 mg/dl
IgM <18 mg/dl
//
ID #T400X402(1b),#T400X402(1b); standard; MUTATION; CH4,CH4
Accession I0020
Systematic name Allele 1 and 2: g.1217delA, c.1198delA, r.1198dela,
Systematic name p.Thr400fsX3
Original code P22
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the CH4 domain
Date 05-Jun-2008 (Rel. 1, Created)
Date 05-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17410177
RefAuthors Ferrari, S., Zuntini, R., Lougaris, V., Soresina, A.,
RefAuthors Sourkova, V., Fiorini, M., Martino, S., Rossi, P.,
RefAuthors Pietrogrande, M. C., Martire, B., Spadaro, G., Cardinale,
RefAuthors F., Cossu, F., Pierani, P., Quinti, I., Rossi, C.,
RefAuthors Plebani, A.
RefTitle Molecular analysis of the pre-BCR complex in a large
RefTitle cohort of patients affected by autosomal-recessive
RefTitle agammaglobulinemia.
RefLoc Genes Immun:325-333 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: X57331: 1217
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X17115; GI:127514; : 1270
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P01871; MUC_HUMAN: 400
Feature /change: T -> QTX
Feature /domain: CH4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: X57331: 1217
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: X17115; GI:127514; : 1270
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P01871; MUC_HUMAN: 400
Feature /change: T -> QTX
Feature /domain: CH4
Status quo Deceased
Sex XX
Relative IGHMbase; I0019brother
Relative Other affected family members: Yes; phenotype:same
Parents
IgA <6.5 mg/dl
IgM <18 mg/dl
//
ID W412X(1),Deletion (1); standard; MUTATION; CH4
Accession I0017
Systematic name Allele 1: g.1255G>A, c.1308G>A, p.W412X
Original code F10-1
Description Allele 1: point mutation in the exon 3 leading to a
Description premature stop codon in the CH4 domain
Description Allele 2: 40-kb deletion
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1255
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X17115; :127514: 1308
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P01871; MUC_HUMAN: 412
Feature /change: W -> X
Feature /domain: CH4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: 40-kb deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Other clinical features: significant enteroviral infection
Treatment IVIG: constant
Treatment Still on IVIG
Sex XX
Ethnic origin Argentina
//
ID #P322X405(1),#P322X405(1); standard; MUTATION; CH3,CH3
Accession I0012
Systematic name Allele 1 and 2: g.738_739delAA, c.1036_1037delAA,
Systematic name p.P322fsX405
Original code F6-1
Description Allele 1 and 2: deletion in the exon 2 leading to a
Description premature stop codon in the CH3 domain
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: X57331: 738..739
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature /note: deletion may be as well g.739_740delAA,
Feature /note: c.1037_1038delAA
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X17115; :127514: 1036..1037
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P01871; MUC_HUMAN: 322
Feature /change: K
Feature /change: -> RVWAHDLQGD QHTDHQRERL AQPEHVHLPR GSQGPDLPAE
Feature /change: CVLHVCPRSR HSHPGLRHPP ILCQHLPHQV HQVDLPGHRP
Feature /change: DHLX
Feature /domain: CH3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: X57331: 738..739
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature /note: deletion may be as well g.739_740delAA,
Feature /note: c.1037_1038delAA
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: X17115; :127514: 1036..1037
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P01871; MUC_HUMAN: 322
Feature /change: K
Feature /change: -> RVWAHDLQGD QHTDHQRERL AQPEHVHLPR GSQGPDLPAE
Feature /change: CVLHVCPRSR HSHPGLRHPP ILCQHLPHQV HQVDLPGHRP
Feature /change: DHLX
Feature /domain: CH3
Symptoms Infections:
Symptoms Bacterial: pneumonia
Symptoms Other clinical features: Pseudomonas sepsis, neutropenia,
Symptoms failure to thrive, diarrhea, otitis, arthritis
Treatment IVIG: constant
Treatment Still on IVIG
Sex XX
Ethnic origin Caucasoid; Spain
Parents Consanguineous
//
ID #P322X405(2),#P322X405(2); standard; MUTATION; CH3,CH3
Accession I0013
Systematic name Allele 1 and 2: g.738_739delAA, c.1036_1037delAA,
Systematic name p.P322fsX405
Original code F9-1
Description Allele 1 and 2: deletion in the exon 2 leading to a
Description premature stop codon in the CH3 domain
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: X57331: 738..739
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature /note: deletion may be as well g.739_740delAA,
Feature /note: c.1037_1038delAA
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X17115; :127514: 1036..1037
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P01871; MUC_HUMAN: 322
Feature /change: K
Feature /change: -> RVWAHDLQGD QHTDHQRERL AQPEHVHLPR GSQGPDLPAE
Feature /change: CVLHVCPRSR HSHPGLRHPP ILCQHLPHQV HQVDLPGHRP
Feature /change: DHLX
Feature /domain: CH3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: X57331: 738..739
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature /note: deletion may be as well g.739_740delAA,
Feature /note: c.1037_1038delAA
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: X17115; :127514: 1036..1037
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P01871; MUC_HUMAN: 322
Feature /change: K
Feature /change: -> RVWAHDLQGD QHTDHQRERL AQPEHVHLPR GSQGPDLPAE
Feature /change: CVLHVCPRSR HSHPGLRHPP ILCQHLPHQV HQVDLPGHRP
Feature /change: DHLX
Feature /domain: CH3
Symptoms Other clinical features: Pseudomonas sepsis, diarrhea,
Symptoms conjunctivitis, bronchiectasis
Treatment IVIG: constant
Treatment Still on IVIG
Sex XY
Ethnic origin Caucasoid; Spain
Parents Consanguineous
//
ID C566G(1),Deletion (1); standard; MUTATION;
Accession I0004
Systematic name Allele 1: g.1893T>G, c.1768T>G, p.C566G
Original code Patient 7
Description Allele 1: point mutation in the exon 4 leading to an amino
Description acid change
Description Allele 2: Large undefined deletion
Date 28-Mar-2003 (Rel. 1, Created)
Date 28-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8890099
RefAuthors Yel, L., Minegishi, Y., Coustan-Smith, E., Buckley, R. H.,
RefAuthors Trubel, H., Pachman, L. M., Kitchingman, G. R., Campana,
RefAuthors D., Rohrer, J., Conley, M. E.
RefTitle Mutations in the mu heavy-chain gene in patients with
RefTitle agammaglobulinemia.
RefLoc N Engl J Med 335:1486-1493 (1996)
RefNumber [2]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1893
Feature /change: t -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1768
Feature /codon: tgc -> ggc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 566
Feature /change: C -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: greater than 260 kb
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Treatment IVIG: constant
Treatment Still on IVIG
Sex XY
Ethnic origin USA/Korea
//
ID E587K(1a),E587K(1a); standard; MUTATION;
Accession I0001
Systematic name Allele 1 and 2: g.1956G>A, c.1831G>A, p.E587K
Original code Patient 2
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 27-Mar-2003 (Rel. 1, Created)
Date 27-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8890099
RefAuthors Yel, L., Minegishi, Y., Coustan-Smith, E., Buckley, R. H.,
RefAuthors Trubel, H., Pachman, L. M., Kitchingman, G. R., Campana,
RefAuthors D., Rohrer, J., Conley, M. E.
RefTitle Mutations in the mu heavy-chain gene in patients with
RefTitle agammaglobulinemia.
RefLoc N Engl J Med 335:1486-1493 (1996)
RefNumber [2]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: the change would cause a substitution of S for G
Feature /note: in the secreted form of the mu chain, or K would
Feature /note: be substituted for the wild type E in the
Feature /note: membrane form, or loss of the consensus G at the
Feature /note: -1 position would be expected to markedly reduce
Feature /note: efficient splicing
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: the change would cause a substitution of S for G
Feature /note: in the secreted form of the mu chain, or K would
Feature /note: be substituted for the wild type E in the
Feature /note: membrane form, or loss of the consensus G at the
Feature /note: -1 position would be expected to markedly reduce
Feature /note: efficient splicing
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Symptoms Other clinical features: chronic enteroviral encephalitis,
Symptoms mental retardation
Treatment IVIG: constant
Treatment Still on IVIG
Sex XX
Ethnic origin Caucasoid; USA
Parents Consanguineous
Relative IGHMbase; I0002 second cousin
Relative IGHMbase; I0003 second cousin
Relative Other affected family members: Yes
Diagnosis Date: 1979
//
ID E587K(1b),E587K(1b); standard; MUTATION;
Accession I0002
Systematic name Allele 1 and 2: g.1956G>A, c.1831G>A, p.E587K
Original code Patient 3
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 27-Mar-2003 (Rel. 1, Created)
Date 27-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8890099
RefAuthors Yel, L., Minegishi, Y., Coustan-Smith, E., Buckley, R. H.,
RefAuthors Trubel, H., Pachman, L. M., Kitchingman, G. R., Campana,
RefAuthors D., Rohrer, J., Conley, M. E.
RefTitle Mutations in the mu heavy-chain gene in patients with
RefTitle agammaglobulinemia.
RefLoc N Engl J Med 335:1486-1493 (1996)
RefNumber [2]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: the change would cause a substitution of S for G
Feature /note: in the secreted form of the mu chain, or K would
Feature /note: be substituted for the wild type E in the
Feature /note: membrane form, or loss of the consensus G at the
Feature /note: -1 position would be expected to markedly reduce
Feature /note: efficient splicing
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: the change would cause a substitution of S for G
Feature /note: in the secreted form of the mu chain, or K would
Feature /note: be substituted for the wild type E in the
Feature /note: membrane form, or loss of the consensus G at the
Feature /note: -1 position would be expected to markedly reduce
Feature /note: efficient splicing
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Symptoms Other clinical features: bronchopneumonia and
Symptoms gastroenteritis at seven months of age
Treatment IVIG: constant
Treatment Still on IVIG
Sex XY
Ethnic origin Caucasoid; USA
Parents Consanguineous
Relative IGHMbase; I0001 second cousin
Relative IGHMbase; I0003 brother
Relative Other affected family members: Yes
Diagnosis Date: 1991
//
ID E587K(1c),E587K(1c); standard; MUTATION;
Accession I0003
Systematic name Allele 1 and 2: g.1956G>A, c.1831G>A, p.E587K
Original code Patient 4
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 27-Mar-2003 (Rel. 1, Created)
Date 27-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8890099
RefAuthors Yel, L., Minegishi, Y., Coustan-Smith, E., Buckley, R. H.,
RefAuthors Trubel, H., Pachman, L. M., Kitchingman, G. R., Campana,
RefAuthors D., Rohrer, J., Conley, M. E.
RefTitle Mutations in the mu heavy-chain gene in patients with
RefTitle agammaglobulinemia.
RefLoc N Engl J Med 335:1486-1493 (1996)
RefNumber [2]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: the change would cause a substitution of S for G
Feature /note: in the secreted form of the mu chain, or K would
Feature /note: be substituted for the wild type E in the
Feature /note: membrane form, or loss of the consensus G at the
Feature /note: -1 position would be expected to markedly reduce
Feature /note: efficient splicing
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: the change would cause a substitution of S for G
Feature /note: in the secreted form of the mu chain, or K would
Feature /note: be substituted for the wild type E in the
Feature /note: membrane form, or loss of the consensus G at the
Feature /note: -1 position would be expected to markedly reduce
Feature /note: efficient splicing
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Treatment IVIG: constant
Treatment Still on IVIG
Sex XY
Ethnic origin Caucasoid; USA
Parents Consanguineous
Relative IGHMbase; I0001 second cousin
Relative IGHMbase; I0002 brother
Relative Other affected family members: Yes
Diagnosis Date: 1991
//
ID E587K(2),E587K(2); standard; MUTATION;
Accession I0005
Systematic name Allele 1 and 2: g.1956delG, c.1831delG, p.E587K
Original code F4-1
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 28-Mar-2003 (Rel. 1, Created)
Date 28-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 ()
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Symptoms Infections:
Symptoms Bacterial: pneumonia
Symptoms Other clinical features: Enteroviral infection,
Symptoms neutropenia
Treatment IVIG: constant
Treatment Still on IVIG
Sex XY
Ethnic origin USA
Parents Consanguineous
Status quo Deceased
//
ID E587K(3a),E587K(3a); standard; MUTATION;
Accession I0006
Systematic name Allele 1 and 2: g.1956delG, c.1831delG, p.E587K
Original code F5-1
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 28-Mar-2003 (Rel. 1, Created)
Date 28-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 ()
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Symptoms Infections:
Symptoms Bacterial: pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Diarrhea, gastroenteritis
Symptoms Other clinical features: bronchiectasis, rhinopharyngitis,
Symptoms stomatitis,
Treatment IVIG: constant
Treatment Still on IVIG
Sex XY
Age 4
Ethnic origin Caucasoid; Sweden
Parents Consanguineous
Relative IGHMbase; I0007 cousin
Relative Other affected family members: Yes
Status quo Alive
//
ID E587K(3b),E587K(3b); standard; MUTATION;
Accession I0007
Systematic name Allele 1 and 2: g.1956delG, c.1831delG, p.E587K
Original code F5-2
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 28-Mar-2003 (Rel. 1, Created)
Date 28-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 ()
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Symptoms Other clinical features: recurrent pharyngitis, otitis,
Symptoms sinusitis, skin infections, recurrent pneumonias,
Symptoms conjunctivitis, severe blepharoconjunctivitis resulting
Symptoms some vision loss
Treatment IVIG: constant
Treatment Still on IVIG
Sex XY
Ethnic origin Caucasoid; Sweden
Parents Consanguineous
Relative IGHMbase; I0006 cousin
Relative Other affected family members: Yes
Status quo Alive
//
ID E587K(5),E587K(5); standard; MUTATION;
Accession I0008
Systematic name Allele 1 and 2: g.1956G>A, c.1831G>A, p.E587K
Original code F8-1
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Symptoms Other clinical features: Failure to thrive, neutropenia
Treatment IVIG: constant
Treatment Still on IVIG
Ethnic origin Caucasoid; Spain
//
ID E587K(6),E587K(6); standard; MUTATION;
Accession I0009
Systematic name Allele 1 and 2: g.1956G>A, c.1831G>A, p.E587K
Original code F11-1
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Symptoms Other clinical features: enteroviral infection
Treatment IVIG: constant
Treatment Still on IVIG
Sex XX
Ethnic origin Caucasoid; Italy
//
ID E587K(7a),E587K(7a); standard; MUTATION;
Accession I0010
Systematic name Allele 1 and 2: g.1956G>A, c.1831G>A, p.E587K
Original code F12-1
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Sex XY
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative IGHMbase; I0011 sister
Status quo Deceased; cause of death: enteroviral encephalitis
//
ID E587K(7b),E587K(7b); standard; MUTATION;
Accession I0011
Systematic name Allele 1 and 2: g.1956G>A, c.1831G>A, p.E587K
Original code F12-3
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and K to E in the membrane form of the molecule
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; :127514: 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Symptoms Infections:
Symptoms Bacterial: pneumonia
Treatment IVIG: constant
Treatment Still on IVIG
Sex XX
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative IGHMbase; I0010 brother
//
ID E587K(8),E587K(8); standard; MUTATION;
Accession I0018
Systematic name Allele 1 and 2: g.1956G>A, c.1759G>A, r.1759g>a,
Systematic name p.Glu587Lys
Original code P15
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Jun-2008 (Rel. 1, Created)
Date 05-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17410177
RefAuthors Ferrari, S., Zuntini, R., Lougaris, V., Soresina, A.,
RefAuthors Sourkova, V., Fiorini, M., Martino, S., Rossi, P.,
RefAuthors Pietrogrande, M. C., Martire, B., Spadaro, G., Cardinale,
RefAuthors F., Cossu, F., Pierani, P., Quinti, I., Rossi, C.,
RefAuthors Plebani, A.
RefTitle Molecular analysis of the pre-BCR complex in a large
RefTitle cohort of patients affected by autosomal-recessive
RefTitle agammaglobulinemia.
RefLoc Genes Immun:325-333 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and would lead to altered splicing
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X17115; GI:127514; : 1831
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P01871; MUC_HUMAN: 587
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: X57331: 1956
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature /note: This alteration would change the G at this
Feature /note: codon to S in the secreted form of mu heavy chain
Feature /note: and would lead to altered splicing
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: X17115; GI:127514; : 1831
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P01871; MUC_HUMAN: 587
Feature /change: E -> K
Sex XX
Relative
Parents
IgA <6.5 mg/dl
IgG <5 mg/dl
IgM <15 mg/dl
//
ID Deletion (1),Deletion (1); standard; MUTATION;
Accession I0014
Original code F7-1
Description Allele 1 and 2: Large 125-kb deletion
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: 125-kb deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: 125-kb deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Other clinical features: Pseudomonas sepsis, neutropenia
Treatment IVIG: constant
Treatment Still on IVIG
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID Deletion (1),Deletion (1); standard; MUTATION;
Accession I0015
Original code F2-1
Description Allele 1 and 2: Large 75-kb deletion
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
RefNumber [2]
RefCrossRef PUBMED; 8890099
RefAuthors Yel, L., Minegishi, Y., Coustan-Smith, E., Buckley, R. H.,
RefAuthors Trubel, H., Pachman, L. M., Kitchingman, G. R., Campana,
RefAuthors D., Rohrer, J., Conley, M. E.
RefTitle Mutations in the mu heavy-chain gene in patients with
RefTitle agammaglobulinemia.
RefLoc N Engl J Med 335:1486-1493 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: 75-kb deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: 75-kb deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Other clinical features: Pseudomonas sepsis, otitis,
Symptoms arthritis,
Treatment IVIG: constant
Treatment Still on IVIG
Sex XY
Ethnic origin Caucasoid; Turkey
Relative IGHMbase; I0016; sister
//
ID Deletion (1),Deletion (1); standard; MUTATION;
Accession I0016
Original code F2-2
Description Allele 1 and 2: Large 75-kb deletion
Date 31-Mar-2003 (Rel. 1, Created)
Date 31-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12370281
RefAuthors Lopez Granados, E., Porpiglia, A. S., Hogan, M. B.,
RefAuthors Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I.,
RefAuthors Hammarstrom, L., Bjorkander, J., Belohradsky, B. H.,
RefAuthors Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
RefTitle Clinical and molecular analysis of patients with defects
RefTitle in micro heavy chain gene.
RefLoc J Clin Invest 110:1029-1035 (2002)
RefNumber [2]
RefCrossRef PUBMED; 8890099
RefAuthors Yel, L., Minegishi, Y., Coustan-Smith, E., Buckley, R. H.,
RefAuthors Trubel, H., Pachman, L. M., Kitchingman, G. R., Campana,
RefAuthors D., Rohrer, J., Conley, M. E.
RefTitle Mutations in the mu heavy-chain gene in patients with
RefTitle agammaglobulinemia.
RefLoc N Engl J Med 335:1486-1493 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: 75-kb deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: 75-kb deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Infections:
Symptoms Bacterial: pneumonia
Symptoms Other clinical features: recurrent episodes of perirectal
Symptoms abscesses,
Treatment IVIG: constant
Treatment Still on IVIG
Sex XY
Ethnic origin Caucasoid; Turkey
Relative IGHMbase; I0015; brother
//
//
|
