Overview

Variant ID 1052
Entrez Gene ID 3811
Gene KIR3DL1 (GeneCards)
Location hg19 19:55329792-55329792
hg38 19:54818337-54818337
Disease Human Skin Fibroblasts (view all the variants in this disease)
Method HiSeq 2500
Mutation(HGVS format) NC_000019.9:g.55329792 G>T (Genome Assembly: hg19)

Other information

Exon or Intron Exon
Position in protein 31
Amino acid changes in protein L > L
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 59128983

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.5463
CADD Raw score (version 1.3) -0.698352 (Deleterious)
FATHMM raw prediction score 0.05909 (Tolerated)
Deleterious probability by DeFine 0.4019 (Neutral)
Entrez Gene ID 3811 (NCBI Gene)
Official Gene Symbol KIR3DL1 (GeneCards)
Number of variants in KIR3DL1 in this database 1 (view all the variants)
Full name killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
Band 19q13.42
Other IDs Vega: OTTHUMG00000065933
OMIM: 604946
HGNC: HGNC:6338
Ensembl: ENSG00000167633
Other names KIR, NKB1, NKAT3, NKB1B, NKAT-3, CD158E1, KIR3DL1/S1
Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 27788131.02 (view all the variants in this individual)
Pubmed ID 27788131
Whose mosaic mutation Normal  
Phenotype 1  
Disease Human Skin Fibroblasts (view all the variants in this disease)
OMIM ID 120353

Publication #1: 27788131

Pubmed ID 27788131
Title The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts.
Journal PLoS Genetics
Publication date 2016.10
Disease Human Skin Fibroblasts
Population Caucasian
Number of cases Male cases: 2;