| Variant ID | 1115 |
|---|---|
| Entrez Gene ID | 23410 |
| Gene | SIRT3 (GeneCards) |
| Location | hg19 11:224090-224090
hg38 11:224090-224090 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.224090 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 319 |
| Amino acid changes in protein | G > G |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8869 |
| CADD Raw score (version 1.3) | 1.732233 (Deleterious) |
| FATHMM raw prediction score | 0.87306 (Tolerated) |
| Deleterious probability by DeFine | 0.8894 (Deleterious) |
| Entrez Gene ID | 23410 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SIRT3 (GeneCards) |
| Number of variants in SIRT3 in this database | 1 (view all the variants) |
| Full name | sirtuin 3 |
| Band | 11p15.5 |
| Other IDs | Vega: OTTHUMG00000119074 OMIM: 604481 HGNC: HGNC:14931 Ensembl: ENSG00000142082 |
| Other names | SIR2L3 |
| Summary | This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [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; |