| Variant ID | 1107 |
|---|---|
| Entrez Gene ID | 6101 |
| Gene | RP1 (GeneCards) |
| Location | hg19 8:55540891-55540891
hg38 8:54628331-54628331 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.55540891 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1483 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9071 |
| CADD Raw score (version 1.3) | -0.772902 (Deleterious) |
| FATHMM raw prediction score | 0.64581 (Tolerated) |
| Deleterious probability by DeFine | 0.7655 (Deleterious) |
| Entrez Gene ID | 6101 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RP1 (GeneCards) |
| Number of variants in RP1 in this database | 4 (view all the variants) |
| Full name | RP1, axonemal microtubule associated |
| Band | 8q11.23-q12.1 |
| Other IDs | Vega: OTTHUMG00000164379 OMIM: 603937 HGNC: HGNC:10263 Ensembl: ENSG00000104237 |
| Other names | ORP1, DCDC4A |
| Summary | This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010] |
| 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; |