| Variant ID | 22291 |
|---|---|
| Entrez Gene ID | 57692 |
| Gene | MAGEE1 (GeneCards) |
| Location | hg19 X:75854903-75854903
hg38 X:76634498-76634498 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.75854903 T>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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.347604 (Deleterious) |
| FATHMM raw prediction score | 0.04301 (Tolerated) |
| Deleterious probability by DeFine | 0.057 (Neutral) |
| Entrez Gene ID | 57692 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAGEE1 (GeneCards) |
| Number of variants in MAGEE1 in this database | 2 (view all the variants) |
| Full name | MAGE family member E1 |
| Band | Xq13.3 |
| Other IDs | Vega: OTTHUMG00000021879 OMIM: 300759 HGNC: HGNC:24934 Ensembl: ENSG00000198934 |
| Other names | HCA1, DAMAGE |
| Summary | This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to cognitive disability. [provided by RefSeq, Mar 2010] |
| Individual ID | 29217584.16 (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; |