Database        MASP2base
Version         1.0
File            masp2pub.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/MASP2base/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF119.html
Gene            MASP2
Disease         MASP-2 deficiency 
OMIM            605102
Sequence        IDRefSeq:D0056; IDRefSeq:C0056; UniProt:O00187 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              D120G(1),D120G(1); standard; MUTATION; CUB1,CUB1
Accession       M0001
Systematic name Allele 1 and 2: g.1630A>G, c.359A>G, r.359a>g, p.Asp120Gly
Description     Allele 1 and 2: a point mutation in the exon 3 leading to
Description     an amino acid change in the CUB1 domain
Date            22-Sep-2003 (Rel. 1, Created)
Date            22-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12904520
RefAuthors      Stengaard-Pedersen, K., Thiel, S., Gadjeva, M., Moller-
RefAuthors      Kristensen, M., Sorensen, R., Jensen, L. T., Sjoholm, A. 
RefAuthors      G., Fugger, L., Jensenius, J. C.
RefTitle        Inherited deficiency of mannan-binding lectin-associated 
RefTitle        serine protease 2.
RefLoc          N Engl J Med 349:554-560 (2003)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0056: 1630
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0056: 380
Feature           /codon: gac -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O00187; MASP2_HUMAN: 120
Feature           /change: D -> G
Feature           /domain: CUB1
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0056: 1630
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0056: 380
Feature           /codon: gac -> ggc; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O00187; MASP2_HUMAN: 120
Feature           /change: D -> G
Feature           /domain: CUB1
Symptoms        Infections:
Symptoms           Pneumonia; Sepsis; Erythema multiforme bullosum
Symptoms        Physical findings:
Symptoms           Ulcerative colitis; Progressive lung fibrosis;
Symptoms           Hypocomplementemia
Symptoms        Others:
Symptoms           SLE was suspected because of joint symptoms and myalgia 
Symptoms           in combination with weakly positive tests for 
Symptoms           antinuclear antibody
Sex             XY
//