| Variant ID | 10126 |
|---|---|
| Entrez Gene ID | 79694 |
| Gene | MANEA (GeneCards) |
| Location | hg19 6:96344140-96344140
hg38 6:95896264-95896264 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.96344140 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0284 |
| CADD Raw score (version 1.3) | -0.213055 (Deleterious) |
| FATHMM raw prediction score | 0.27637 (Tolerated) |
| Deleterious probability by DeFine | 0.0804 (Neutral) |
| Entrez Gene ID | 79694 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MANEA (GeneCards) |
| Number of variants in MANEA in this database | 3 (view all the variants) |
| Full name | mannosidase endo-alpha |
| Band | 6q16.1 |
| Other IDs | Vega: OTTHUMG00000016296 OMIM: 612327 HGNC: HGNC:21072 Ensembl: ENSG00000172469 |
| Other names | ENDO, hEndo |
| Summary | N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 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; |