| Variant ID | 938 |
|---|---|
| Entrez Gene ID | 7051 |
| Gene | TGM1 (GeneCards) |
| Location | hg19 14:24728372-24728372
hg38 14:24259166-24259166 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000014.8:g.24728372 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 356 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0329 |
| CADD Raw score (version 1.3) | 1.792713 (Deleterious) |
| FATHMM raw prediction score | 0.95977 (Tolerated) |
| Deleterious probability by DeFine | 0.9032 (Deleterious) |
| Entrez Gene ID | 7051 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TGM1 (GeneCards) |
| Number of variants in TGM1 in this database | 2 (view all the variants) |
| Full name | transglutaminase 1 |
| Band | 14q12 |
| Other IDs | Vega: OTTHUMG00000029329 OMIM: 190195 HGNC: HGNC:11777 Ensembl: ENSG00000092295 |
| Other names | LI, KTG, LI1, TGK, ICR2, ARCI1, TGASE |
| Summary | The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [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; |