| Variant ID | 12590 |
|---|---|
| Entrez Gene ID | 4482 |
| Gene | MSRA (GeneCards) |
| Location | hg19 8:10184037-10184037
hg38 8:10326527-10326527 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.10184037 T>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| 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 | 0.4535 |
| CADD Raw score (version 1.3) | 1.007153 (Deleterious) |
| FATHMM raw prediction score | 0.67983 (Tolerated) |
| Deleterious probability by DeFine | 0.6214 (Deleterious) |
| Entrez Gene ID | 4482 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MSRA (GeneCards) |
| Number of variants in MSRA in this database | 3 (view all the variants) |
| Full name | methionine sulfoxide reductase A |
| Band | 8p23.1 |
| Other IDs | Vega: OTTHUMG00000090517 OMIM: 601250 HGNC: HGNC:7377 Ensembl: ENSG00000175806 |
| Other names | PMSR |
| Summary | This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |