| Variant ID | 21481 |
|---|---|
| Entrez Gene ID | 9334 |
| Gene | B4GALT5 (GeneCards) |
| Location | hg19 20:48254843-48254843
hg38 20:49638306-49638306 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.48254843 C>T (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 | -0.221 |
| CADD Raw score (version 1.3) | 0.177576 (Deleterious) |
| FATHMM raw prediction score | 0.08665 (Tolerated) |
| Deleterious probability by DeFine | 0.1506 (Neutral) |
| Entrez Gene ID | 9334 (NCBI Gene) |
|---|---|
| Official Gene Symbol | B4GALT5 (GeneCards) |
| Number of variants in B4GALT5 in this database | 2 (view all the variants) |
| Full name | beta-1,4-galactosyltransferase 5 |
| Band | 20q13.13 |
| Other IDs | Vega: OTTHUMG00000033086 OMIM: 604016 HGNC: HGNC:928 Ensembl: ENSG00000158470 |
| Other names | gt-V, B4Gal-T5, beta4Gal-T5, beta4GalT-V, BETA4-GALT-IV |
| Summary | This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (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; |