HLA-DPB1 M116V - GET-Evidence

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

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Curation:
Currentness:

HLA-DPB1 M116V

(HLA-DPB1 Met116Val)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:39am by Genome Importing Robot.

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

  • G @ chr6:33048694: 17.9% (1342/7484) in EVS
  • Frequency shown in summary reports: 17.9% (1342/7484)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr6:33048694

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr6:33048694

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr6:33048694

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr6:33048694

 

 

 

 

 

 

Added in this revision:

 

Other external references
 

    dbSNP
  • rs9277356
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (5 hits -- see all)
  • HLA class II histocompatibility antigen, DP beta 1 chain ...
    The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha ... "Extended HLA-DPB1 polymorphism: an RNA approach for HLA-DPB1 typing. ...
    www.uniprot.org/uniprot/P04440
  • Online Supplement
    rs1042151 HLA-DPB1. rs8191754 IGF2R. rs1042140 HLA-DPB1. rs11575194 ... rs2229114 IL10RA. rs9277356 HLA-DPB1. rs17121493 IL10RA. rs9277348 HLA-DPB1. rs2229113 IL10RA ...
    atvb.ahajournals.org/cgi/data/.../DC1/1
  • DOI: 10.1161/01.ATV.0000247248.76409.8b 28, 2006; 2006;26 ...
    rs1042151 HLA-DPB1. rs8191754 IGF2R. rs1042140 HLA-DPB1. rs11575194 ... rs2229114 IL10RA. rs9277356 HLA-DPB1. rs17121493 IL10RA. rs9277348 HLA-DPB1. rs2229113 IL10RA ...
    atvb.ahajournals.org/cgi/reprint/26/12/2763.pdf
  • HLA-DPB1 Gene - GeneCards | DPB1 Protein | DPB1 Antibody
    DPB12. HLA-DP histocompatibility type, beta-1 subunit2. MHC HLA DPB12 ... HLA-DPB1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=HLA-DPB1&snp=411
  • UniProt: P04440
    ... "Extended HLA-DPB1 polymorphism: an RNA approach for HLA-DPB1 RT ... RT "HLA-DPB1 alleles in a population from north India and description of RT a new variant (DPB1*5601)."; RL ...
    www.genome.jp/dbget-bin/www_bget?uniprot:P04440

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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