| Variant ID | 1145 |
|---|---|
| Entrez Gene ID | 4248 |
| Gene | MGAT3 (GeneCards) |
| Location | hg19 22:39883631-39883631
hg38 22:39487626-39487626 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000022.10:g.39883631 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 93 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3689 |
| CADD Raw score (version 1.3) | 0.341271 (Deleterious) |
| FATHMM raw prediction score | 0.95651 (Tolerated) |
| Deleterious probability by DeFine | 0.893 (Deleterious) |
| Entrez Gene ID | 4248 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MGAT3 (GeneCards) |
| Number of variants in MGAT3 in this database | 2 (view all the variants) |
| Full name | mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase |
| Band | 22q13.1 |
| Other IDs | Vega: OTTHUMG00000030185 OMIM: 604621 HGNC: HGNC:7046 Ensembl: ENSG00000128268 |
| Other names | GNT3, GNT-III |
| Summary | There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [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; |