| Variant ID | 1020 |
|---|---|
| Entrez Gene ID | 26290 |
| Gene | GALNT8 (GeneCards) |
| Location | hg19 12:4835921-4835921
hg38 12:4726755-4726755 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.4835921 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 145 |
| Amino acid changes in protein | R > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4502 |
| CADD Raw score (version 1.3) | 1.017827 (Deleterious) |
| FATHMM raw prediction score | 0.19095 (Tolerated) |
| Deleterious probability by DeFine | 0.6221 (Deleterious) |
| Entrez Gene ID | 26290 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GALNT8 (GeneCards) |
| Number of variants in GALNT8 in this database | 1 (view all the variants) |
| Full name | polypeptide N-acetylgalactosaminyltransferase 8 |
| Band | 12p13.32 |
| Other IDs | Vega: OTTHUMG00000166188 OMIM: 606250 HGNC: HGNC:4130 Ensembl: ENSG00000130035 |
| Other names | GALNAC-T8 |
| Summary | This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [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; |