| Variant ID | 20211 |
|---|---|
| Entrez Gene ID | 25941 |
| Gene | TPGS2 (GeneCards) |
| Location | hg19 18:34379514-34379514
hg38 18:36799551-36799551 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.34379514 A>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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2413 |
| CADD Raw score (version 1.3) | 0.140621 (Deleterious) |
| FATHMM raw prediction score | 0.10393 (Tolerated) |
| Deleterious probability by DeFine | 0.6255 (Deleterious) |
| Entrez Gene ID | 25941 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPGS2 (GeneCards) |
| Number of variants in TPGS2 in this database | 1 (view all the variants) |
| Full name | tubulin polyglutamylase complex subunit 2 |
| Band | 18q12.2 |
| Other IDs | Vega: OTTHUMG00000178075 HGNC: HGNC:24561 Ensembl: ENSG00000134779 |
| Other names | L17, PGs2, C18orf10, HMFN0601 |
| Summary | This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |