MASP2 R439H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

MASP2 R439H

(MASP2 Arg439His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr1:11087687: 3.3% (355/10750) in EVS
  • T @ chr1:11010273: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (355/10750)

Publications
 

Genomes
 

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr1:11010274

 

Other external references
 

    dbSNP
  • rs12085877
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (11 hits -- see all)
  • MASP2 Gene - GeneCards | MASP2 Protein | MASP2 Antibody
    MASP2 Gene. protein-coding GIFtS: 59. GC01M011009. mannan-binding lectin ... MASP2 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2
  • Mannan-binding lectin serine protease 2 precursor - Homo ...
    Genetic variation in MASP2 is the cause of MASP2 deficiency [MIM:605102] ... R H: dbSNP rs12085877. VAR_028787. Experimental info. Mutagenesis. 74. 1. Y A: Strongly ...
    www.uniprot.org/uniprot/O00187
  • Polymorphisms in mannan-binding lectin (MBL)-associated ...
    In contrast, the R439H variant was deficient in this process despite its normal ... MASP2 protein, human. Mannose-Binding Protein-Associated Serine Proteases ...
    www.ncbi.nlm.nih.gov/pubmed/19234189
  • Polymorphisms in Mannan-Binding Lectin (MBL)-Associated ...
    In contrast, the R439H variant was deficient in this process despite its normal ... We find the R439H variant is common in Sub-Saharan Africans with a gene ...
    www.jimmunol.org/cgi/content/full/182/5/2939
  • Mooney Lab - MutDB
    MASP2. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ... DBSNP:rs12085877. 438. R H. NCBI. In dbsnp. None. Not scored. Synonymous Mutations. Back to top ...
    mutdb.org/cgi-bin/mutdb.pl?id=MASP2&geneid=10747
  • Identification of the site of human mannan-binding lectin ...
    BioInfoBank Library :: Identification of the site of human mannan-binding lectin involved in the interaction with its partner serine proteases: the essential role of ...
    lib.bioinfo.pl/pmid:17442954
  • UniProt: O00187
    ... 120, CHARACTERIZATION OF VARIANT GLY-120, AND INVOLVEMENT RP IN MASP2 DEFICIENCY. ... Genetic variation in MASP2 is the cause of MASP2 CC deficiency [MIM:605102] ...
    www.genome.jp/dbget-bin/www_bget?uniprot:O00187
  • SNP_ID GenomeBuild Chromosome Coordinate Variant type
    MASP2. 554. rs12085877. 36. 1. 11010274. coding-nonsynon,cds-reference ... MASP2. 558. rs6695096. 36. 1. 11017626. intron. MASP2. 559. rs12131963. 36. 1. 11020857. intron. MASP2 ...
    bioinf.itmat.upenn.edu/cvdsnp/updates/snp_details-ibc-v1.xls

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in