| Variant ID | 5777 |
|---|---|
| Entrez Gene ID | 2632 |
| Gene | GBE1 (GeneCards) |
| Location | hg19 3:83791407-83791407
hg38 3:83742256-83742256 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.83791407 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5079 |
| CADD Raw score (version 1.3) | -0.434193 (Deleterious) |
| FATHMM raw prediction score | 0.07788 (Tolerated) |
| Deleterious probability by DeFine | 0.6012 (Deleterious) |
| Entrez Gene ID | 2632 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GBE1 (GeneCards) |
| Number of variants in GBE1 in this database | 25 (view all the variants) |
| Full name | 1,4-alpha-glucan branching enzyme 1 |
| Band | 3p12.2 |
| Other IDs | Vega: OTTHUMG00000158978 OMIM: 607839 HGNC: HGNC:4180 Ensembl: ENSG00000114480 |
| Other names | GBE, APBD, GSD4 |
| Summary | The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |