Database        IGLL1base
Version         1.0
File            igll1pub.txt
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/igll1base/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF27.html
Gene            IGLL1
Disease         lambda-5 surrogate light-chain deficiency
OMIM            146770
GDB             127955
Sequence        IDRefSeq:D0045; IDRefSeq:C0045; UniProt:P15814 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              Q22X(1),P142L(1); standard; MUTATION; ,CR
Accession       G0001
Systematic name Allele 1: g.258C>T, c.182C>T, p.Q22X
Systematic name Allele 2: g.6904C>T, c.543C>T, p.P142L
Original code   5-year-old boy
Description     Allele 1: point mutation in the exon 1 leading to a 
Description     premature stop codon
Description     Allele 2: point mutation in the exon 3 leading to an amino 
Description     acid change in the CR domain
Date            15-Oct-2002 (Rel. 1, Created)
Date            15-Oct-2002 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9419212
RefAuthors      Minegishi, Y., Coustan-Smith, E., Wang, Y. H., Cooper, M. 
RefAuthors      D., Campana, D., Conley, M. E.
RefTitle        Mutations in the human lambda5/14.1 gene result in B cell 
RefTitle        deficiency and agammaglobulinemia.
RefLoc          J Exp Med 187:71-77 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0045: 258
Feature           /change: c -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0045: 182
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P15814; IGLL1_HUMAN: 22
Feature           /change: Q -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0045: 6904
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0045: 543
Feature           /codon: ccg -> ctg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: P15814; IGLL1_HUMAN: 142
Feature           /change: P -> L
Feature           /domain: CR
Sex             XY
Parents         Non-consanguineous
//