KIR3DL3 R149S - GET-Evidence

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

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Curation:
Currentness:

KIR3DL3 R149S

(KIR3DL3 Arg149Ser)


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 @ chr19:55239168: 11.7% (1019/8744) in EVS
  • Frequency shown in summary reports: 11.7% (1019/8744)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr19:55239168

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr19:55239168

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr19:55239168

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr19:55239168

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr19:55239168

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr19:55239168

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr19:55239168

 

Other external references
 

    dbSNP
  • rs62132665
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • Killer cell immunoglobulin-like receptor 3DL3 precursor ...
    ... KIR3DL3*00901, allele KIR3DL3*00902, allele KIR3DL3*010 and allele KIR3DL3*028. ... allele KIR3DL3*00601, allele KIR3DL3*00602, allele KIR3DL3*01101, allele KIR3DL3 ...
    www.uniprot.org/uniprot/Q8N743
  • Supplementary Table xls.1
    rs11568489*R149S. rs11568491*V281A. rs11568520*F17L. rs11568525*P549S ... rs16985907*KIR3DL3 NM_153443 NP_703144*A348PQkiller cell immunoglobulin-like ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • UniProt: KI3L3_HUMAN
    FT VARIANT 149 149 R -> S (in allele KIR3DL3*00601, allele FT KIR3DL3*00602, allele KIR3DL3*01501 and FT allele KIR3DL3*01601; dbSNP:rs62132665). FT /FTId=VAR_060613. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:KI3L3_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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