| Variant ID | 22002 |
|---|---|
| Entrez Gene ID | 8905 |
| Gene | AP1S2 (GeneCards) |
| Location | hg19 X:15933150-15933150
hg38 X:15915027-15915027 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.15933150 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.270287 (Deleterious) |
| FATHMM raw prediction score | 0.09747 (Tolerated) |
| Deleterious probability by DeFine | 0.4913 (Neutral) |
| Entrez Gene ID | 8905 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AP1S2 (GeneCards) |
| Number of variants in AP1S2 in this database | 3 (view all the variants) |
| Full name | adaptor related protein complex 1 subunit sigma 2 |
| Band | Xp22.2 |
| Other IDs | Vega: OTTHUMG00000021186 OMIM: 300629 HGNC: HGNC:560 Ensembl: ENSG00000182287 |
| Other names | PGS, DC22, MRX59, MRXS5, MRXSF, MRXS21, SIGMA1B |
| Summary | Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |