| Variant ID | 20776 |
|---|---|
| Entrez Gene ID | 2589 |
| Gene | GALNT1 (GeneCards) |
| Location | hg19 18:33420880-33420880
hg38 18:35840916-35840916 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.33420880 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0658 |
| CADD Raw score (version 1.3) | 0.67508 (Deleterious) |
| FATHMM raw prediction score | 0.23503 (Tolerated) |
| Deleterious probability by DeFine | 0.0801 (Neutral) |
| Entrez Gene ID | 2589 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GALNT1 (GeneCards) |
| Number of variants in GALNT1 in this database | 2 (view all the variants) |
| Full name | polypeptide N-acetylgalactosaminyltransferase 1 |
| Band | 18q12.2 |
| Other IDs | Vega: OTTHUMG00000132567 OMIM: 602273 HGNC: HGNC:4123 Ensembl: ENSG00000141429 |
| Other names | GALNAC-T1 |
| 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. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |