| Variant ID | 1123 |
|---|---|
| Entrez Gene ID | 6011 |
| Gene | GRK1 (GeneCards) |
| Location | hg19 13:114324091-114324091
hg38 13:113669776-113669776 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000013.10:g.114324091 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 263 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3155 |
| CADD Raw score (version 1.3) | 1.85111 (Deleterious) |
| FATHMM raw prediction score | 0.96799 (Tolerated) |
| Deleterious probability by DeFine | 0.8586 (Deleterious) |
| Entrez Gene ID | 6011 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRK1 (GeneCards) |
| Number of variants in GRK1 in this database | 1 (view all the variants) |
| Full name | G protein-coupled receptor kinase 1 |
| Band | 13q34 |
| Other IDs | Vega: OTTHUMG00000185528 OMIM: 180381 HGNC: HGNC:10013 Ensembl: ENSG00000185974 |
| Other names | RK, RHOK, GPRK1 |
| Summary | This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008] |
| 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 |
| 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; |