| Variant ID | 1517 |
|---|---|
| Entrez Gene ID | 5428 |
| Gene | POLG (GeneCards) |
| Location | hg19 15:89866069-89866069
hg38 15:89322838-89322838 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000015.9:g.89866069 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 777 |
| Amino acid changes in protein | G > V |
| Position in cDNA | 2330 |
| Changes in cDNA | G > T |
| mRNA accession | NM_001126131.1 |
| mRNA length | 4452 |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9249 |
| CADD Raw score (version 1.3) | 6.770822 (Deleterious) |
| FATHMM raw prediction score | 0.9725 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.4 (Deleterious) |
| PROVEAN score | -6.29 (Deleterious) |
| MetaSVM score | 1.099 (Deleterious) |
| MetaLR score | 0.959 (Deleterious) |
| MCAP score | 0.534 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.542 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.261 |
| Deleterious probability by iFish2 | 0.9939 (Deleterious) |
| Deleterious probability by DeFine | 0.9707 (Deleterious) |
| Entrez Gene ID | 5428 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POLG (GeneCards) |
| Number of variants in POLG in this database | 2 (view all the variants) |
| Full name | DNA polymerase gamma, catalytic subunit |
| Band | 15q26.1 |
| Other IDs | Vega: OTTHUMG00000149646 OMIM: 174763 HGNC: HGNC:9179 Ensembl: ENSG00000140521 |
| Other names | PEO, MDP1, SCAE, MIRAS, POLG1, POLGA, SANDO, MTDPS4A, MTDPS4B |
| Summary | Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28699658.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28699658 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| OMIM ID | 609135 |
| Pubmed ID | 28699658 |
|---|---|
| Title | Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia. |
| Journal | British Journal of Haematology |
| Publication date | 2017.08 |
| Disease | Aplastic Anaemia |
| Number of cases | Male cases: 22; Female cases: 1; cases of unknown sex: 4; |