| Variant ID | 21469 |
|---|---|
| Entrez Gene ID | 7053 |
| Gene | TGM3 (GeneCards) |
| Location | hg19 20:2347113-2347113
hg38 20:2366467-2366467 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.2347113 G>A (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1542 |
| CADD Raw score (version 1.3) | 0.171437 (Deleterious) |
| FATHMM raw prediction score | 0.08277 (Tolerated) |
| Deleterious probability by DeFine | 0.281 (Neutral) |
| Entrez Gene ID | 7053 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TGM3 (GeneCards) |
| Number of variants in TGM3 in this database | 1 (view all the variants) |
| Full name | transglutaminase 3 |
| Band | 20p13 |
| Other IDs | Vega: OTTHUMG00000031690 OMIM: 600238 HGNC: HGNC:11779 Ensembl: ENSG00000125780 |
| Other names | TGE, UHS2 |
| Summary | Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008] |
| 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; |