| Variant ID | 6707 |
|---|---|
| Entrez Gene ID | 5470 |
| Gene | PPEF2 (GeneCards) |
| Location | hg19 4:76828691-76828691
hg38 4:75907538-75907538 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.76828691 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6662 |
| CADD Raw score (version 1.3) | -0.515935 (Deleterious) |
| FATHMM raw prediction score | 0.04241 (Tolerated) |
| Deleterious probability by DeFine | 0.0744 (Neutral) |
| Entrez Gene ID | 5470 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPEF2 (GeneCards) |
| Number of variants in PPEF2 in this database | 2 (view all the variants) |
| Full name | protein phosphatase with EF-hand domain 2 |
| Band | 4q21.1 |
| Other IDs | Vega: OTTHUMG00000160915 OMIM: 602256 HGNC: HGNC:9244 Ensembl: ENSG00000156194 |
| Other names | PPP7CB |
| Summary | This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.12 (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; |