Variant "KIR3DL1:c.202A>G(p.Ile47Val)"
Search result: 1 record
Variant information
Gene:
KIR3DL1 
Variant:
KIR3DL1:c.202A>G(p.Ile47Val) 
Genomic location:
chr19:55329901(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001322168.1:c.202A>G(p.Ile68Val)
protein_coding NM_013289.2:c.202A>G(p.Ile68Val)
protein_coding NM_002255.5:c.*4335A>G
protein_coding NM_001080770.1:c.*4335A>G
protein_coding NM_001080772.1.2:c.*4745A>G
dbSNP ID:
rs643347  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Susceptibility To Human Immunodeficiency Virus Type 1 (OMIM_609423)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    The variant (rs643347A/G) is a significant modifier of B*57 protection.
    Reference:
    PMID29461980
    Title:
    Killer cell immunoglobulin-like receptor 3DL1 variation modifies HLA-B*57 protection against HIV-1.
    Species studied:
    Human
    Abstract:
    HLA-B*57 control of HIV involves enhanced CD8+ T cell responses against infected cells, but extensive heterogeneity exists in the level of HIV control among B*57+ individuals. Using whole-genome sequencing of untreated B*57+ HIV-1-infected controllers and noncontrollers, we identified a single variant (rs643347A/G) encoding an isoleucine-to-valine substitution at position 47 (I47V) of the inhibitory killer cell immunoglobulin-like receptor KIR3DL1 as the only significant modifier of B*57 protection. The association was replicated in an independent cohort and across multiple outcomes. The modifying effect of I47V was confined to B*57:01 and was not observed for the closely related B*57:03. Positions 2, 47, and 54 tracked one another nearly perfectly, and 2 KIR3DL1 allotypes differing only at these 3 positions showed significant differences in binding B*57:01 tetramers, whereas the protective allotype showed lower binding. Thus, variation in an immune NK cell receptor that binds B*57:01 modifies its protection. These data highlight the exquisite specificity of KIR-HLA interactions in human health and disease.