Database IGHG2base
Version 1.0
File ighg2pub.html
Date 15-Jun-2007
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/IGHG2base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF29.html
Gene IGHG2
Disease IgG2 deficiency
OMIM 147110
GDB 119338
Sequence IDRefSeq:D0043; IDRefSeq:C0043; UniProt:Q6N093
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID @G416X417(1a),@G416X417(1a); standard; MUTATION;
Accession I0001
Systematic name Allele 1 and 2: g.1795dupG, c.1247dupG, r.1247dupg,
Systematic name p.Lys417fsX0
Original code 5-yr-old boy
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 4 leading to a premature stop codon
Date 20-Jan-2005 (Rel. 1, Created)
Date 20-Jan-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9449702
RefAuthors Tashita, H., Fukao, T., Kaneko, H., Teramoto, T., Inoue,
RefAuthors R., Kasahara, K., Kondo, N.
RefTitle Molecular basis of selective igG2 deficiency. the mutated
RefTitle membrane-bound form of gamma2 heavy chain caused complete
RefTitle IGG2 deficiency in two japanese siblings.
RefLoc J Clin Invest 101:677-681 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0043: 1796
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0043: 1249
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 416
Feature /change: G -> GX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0043: 1796
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0043: 1249
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 416
Feature /change: G -> GX
Symptoms Otitis media and respiratory infections such as pneumonia
Symptoms has occurred repeatedly
Sex XY
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Relative IGHG2base; I0002 brother
//
ID @G416X417(1b),@G416X417(1b); standard; MUTATION;
Accession I0002
Systematic name Allele 1 and 2: g.1795dupG, c.1247dupG, r.1247dupg,
Systematic name p.Lys417fsX0
Original code 10-yr-old boy
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 4 leading to a premature stop codon
Date 20-Jan-2005 (Rel. 1, Created)
Date 20-Jan-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9449702
RefAuthors Tashita, H., Fukao, T., Kaneko, H., Teramoto, T., Inoue,
RefAuthors R., Kasahara, K., Kondo, N.
RefTitle Molecular basis of selective igG2 deficiency. the mutated
RefTitle membrane-bound form of gamma2 heavy chain caused complete
RefTitle IGG2 deficiency in two japanese siblings.
RefLoc J Clin Invest 101:677-681 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0043: 1796
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0043: 1249
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 416
Feature /change: G -> GX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0043: 1796
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0043: 1249
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 416
Feature /change: G -> GX
Symptoms Otitis media and respiratory infections such as pneumonia
Symptoms has occurred repeatedly
Sex XY
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Relative IGHG2base; I0001 brother
//
ID Intron 1(1a),Intron 1(1a); standard; MUTATION;
Accession I0003
Systematic name Allele 1 and 2: g.IVS1+4A>G, c.568+4A>G, r.568+4a>g,
Original code OLS
Description Allele 1 and 2: a point mutation in the intron 1 leading to
Description aberrant splicing
Date 20-Jan-2005 (Rel. 1, Created)
Date 20-Jan-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15569770
RefAuthors Zhao, Y., Pan-Hammarstrom, Q., Zhao, Z., Wen, S.,
RefAuthors Hammarstrom, L.
RefTitle Selective igG2 deficiency due to a point mutation causing
RefTitle abnormal splicing of the C{gamma}2 gene.
RefLoc Int Immunol 17:95-101 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0043: 513
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift; deletion
Feature /loc: IDRefSeq: C0043: 554..569
Feature /change: -gtggacaaga cagttg
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 185..190
Feature /change: VDKTVE -> SANVVSSAHR AQHHLWQDRQ SSSSPQNPRT PSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0043: 513
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift; deletion
Feature /loc: IDRefSeq: C0043: 554..569
Feature /change: -gtggacaaga cagttg
Feature /inexloc: +4
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 185..190
Feature /change: VDKTVE -> SANVVSSAHR AQHHLWQDRQ SSSSPQNPRT PSX
Sex XY
Relative IGHG2base; I0004 brother
Relative IGHG2base; I0005 brother
//
ID Intron 1(1b),Intron 1(1b); standard; MUTATION;
Accession I0004
Systematic name Allele 1 and 2: g.IVS1+4A>G, c.568+4A>G, r.568+4a>g,
Description Allele 1 and 2: a point mutation in the intron 1 leading to
Description aberrant splicing
Date 20-Jan-2005 (Rel. 1, Created)
Date 20-Jan-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15569770
RefAuthors Zhao, Y., Pan-Hammarstrom, Q., Zhao, Z., Wen, S.,
RefAuthors Hammarstrom, L.
RefTitle Selective igG2 deficiency due to a point mutation causing
RefTitle abnormal splicing of the C{gamma}2 gene.
RefLoc Int Immunol 17:95-101 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0043: 513
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift; deletion
Feature /loc: IDRefSeq: C0043: 554..569
Feature /change: -gtggacaaga cagttg
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 185..190
Feature /change: VDKTVE -> SANVVSSAHR AQHHLWQDRQ SSSSPQNPRT PSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0043: 513
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift; deletion
Feature /loc: IDRefSeq: C0043: 554..569
Feature /change: -gtggacaaga cagttg
Feature /inexloc: +4
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 185..190
Feature /change: VDKTVE -> SANVVSSAHR AQHHLWQDRQ SSSSPQNPRT PSX
Sex XY
Relative IGHG2base; I0003 brother
Relative IGHG2base; I0005 brother
//
ID Intron 1(1c),Intron 1(1c); standard; MUTATION;
Accession I0005
Systematic name Allele 1 and 2: g.IVS1+4A>G, c.568+4A>G, r.568+4a>g,
Description Allele 1 and 2: a point mutation in the intron 1 leading to
Description aberrant splicing
Date 20-Jan-2005 (Rel. 1, Created)
Date 20-Jan-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15569770
RefAuthors Zhao, Y., Pan-Hammarstrom, Q., Zhao, Z., Wen, S.,
RefAuthors Hammarstrom, L.
RefTitle Selective igG2 deficiency due to a point mutation causing
RefTitle abnormal splicing of the C{gamma}2 gene.
RefLoc Int Immunol 17:95-101 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0043: 513
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift; deletion
Feature /loc: IDRefSeq: C0043: 554..569
Feature /change: -gtggacaaga cagttg
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 185..190
Feature /change: VDKTVE -> SANVVSSAHR AQHHLWQDRQ SSSSPQNPRT PSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0043: 513
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift; deletion
Feature /loc: IDRefSeq: C0043: 554..569
Feature /change: -gtggacaaga cagttg
Feature /inexloc: +4
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q6N093; Q6N093_HUMAN: 185..190
Feature /change: VDKTVE -> SANVVSSAHR AQHHLWQDRQ SSSSPQNPRT PSX
Sex XY
Relative IGHG2base; I0003 brother
Relative IGHG2base; I0004 brother
//
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