| Variant ID | 2820 |
|---|---|
| Entrez Gene ID | 5664 |
| Gene | PSEN2 (GeneCards) |
| Location | hg19 1:227111503-227111503
hg38 1:226923802-226923802 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.227111503 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0822 |
| CADD Raw score (version 1.3) | 0.230267 (Deleterious) |
| FATHMM raw prediction score | 0.11215 (Tolerated) |
| Deleterious probability by DeFine | 0.4756 (Neutral) |
| Entrez Gene ID | 5664 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PSEN2 (GeneCards) |
| Number of variants in PSEN2 in this database | 3 (view all the variants) |
| Full name | presenilin 2 |
| Band | 1q42.13 |
| Other IDs | Vega: OTTHUMG00000037563 OMIM: 600759 HGNC: HGNC:9509 Ensembl: ENSG00000143801 |
| Other names | AD4, PS2, AD3L, STM2, CMD1V |
| Summary | Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |