Database        LRRC8Abase
Version         1.0
File            lrrc8apub.html
Date            18-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/LRRC8Abase/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF151.html
Gene            LRRC8A
Disease         Non-Bruton type autosomal dominant agammaglobulinemia  
OMIM            608360
Sequence        IDRefSeq:D0055; IDRefSeq:C0055; UniProt:Q8IWT6 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              Deletion(1); standard; MUTATION;
Accession       L0001
Description     Truncation of the LRRC8 gene due to chromosomal 
Description     translocation t(9;20)(q33.2;q12)
Date            16-Feb-2005 (Rel. 7, Created)
Date            16-Feb-2005 (Rel. 7, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14660746
RefAuthors      Sawada, A., Takihara, Y., Kim, J. Y., Matsuda-Hashii, Y., 
RefAuthors      Tokimasa, S., Fujisaki, H., Kubota, K., Endo, H., Onodera, 
RefAuthors      T., Ohta, H., Ozono, K., Hara, J.
RefTitle        A congenital mutation of the novel gene LRRC8 causes 
RefTitle        agammaglobulinemia in humans.
RefLoc          J Clin Invest 112:1707-1713 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0055: 2347..12872
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: insertion; frameshift
Feature           /loc: IDRefSeq: C0055: 2158
Feature           /note: insertion of intronic nucleotides from intron 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q8IWT6; LRC8A_HUMAN: 720
Feature           /change: I -> VSGPATALRV GWRVAWPGLV VGHSAGSVSW DRRCPX
Age             17
Sex             XX
Family history  De novo
//