| Variant ID | 995 |
|---|---|
| Entrez Gene ID | 5161 |
| Gene | PDHA2 (GeneCards) |
| Location | hg19 4:96761518-96761518
hg38 4:95840367-95840367 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.96761518 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 73 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0368 |
| CADD Raw score (version 1.3) | 6.779838 (Deleterious) |
| FATHMM raw prediction score | 0.98702 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.355 (Deleterious) |
| PROVEAN score | -3.71 (Deleterious) |
| MetaSVM score | 1.032 (Deleterious) |
| MetaLR score | 0.98 (Deleterious) |
| MCAP score | 0.255 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.81 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.19 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.768 |
| Deleterious probability by iFish2 | 0.9894 (Deleterious) |
| Deleterious probability by DeFine | 0.9525 (Deleterious) |
| Entrez Gene ID | 5161 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDHA2 (GeneCards) |
| Number of variants in PDHA2 in this database | 23 (view all the variants) |
| Full name | pyruvate dehydrogenase E1 alpha 2 subunit |
| Band | 4q22.3 |
| Other IDs | Vega: OTTHUMG00000130990 OMIM: 179061 HGNC: HGNC:8807 Ensembl: ENSG00000163114 |
| Other names | PDHAL |
| Summary | None |
| 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; |