Overview

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)

Other information

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

Annotations and predictions

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 #1

Individual ID 29217584.12 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

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;