| Variant ID | 1065 |
|---|---|
| Entrez Gene ID | 5956 |
| Gene | OPN1LW (GeneCards) |
| Location | hg19 X:153418539-153418539
hg38 X:154153066-154153066 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.153418539 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 179 |
| Amino acid changes in protein | W > * |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 9.476714 (Deleterious) |
| FATHMM raw prediction score | 0.98223 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.57 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.526 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.462 |
| Deleterious probability by DeFine | 0.9747 (Deleterious) |
| Entrez Gene ID | 5956 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OPN1LW (GeneCards) |
| Number of variants in OPN1LW in this database | 1 (view all the variants) |
| Full name | opsin 1, long wave sensitive |
| Band | Xq28 |
| Other IDs | Vega: OTTHUMG00000034295 OMIM: 300822 HGNC: HGNC:9936 Ensembl: ENSG00000102076 |
| Other names | CBP, RCP, ROP, CBBM, COD5 |
| Summary | This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [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; |