Overview

Variant ID 14716
Entrez Gene ID 5592
Gene PRKG1 (GeneCards)
Location hg19 10:53610767-53610767
hg38 10:51851007-51851007
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000010.10:g.53610767 C>T (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 135534747

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.4638
CADD Raw score (version 1.3) -0.166816 (Deleterious)
FATHMM raw prediction score 0.05289 (Tolerated)
Deleterious probability by DeFine 0.1277 (Neutral)
Entrez Gene ID 5592 (NCBI Gene)
Official Gene Symbol PRKG1 (GeneCards)
Number of variants in PRKG1 in this database 13 (view all the variants)
Full name protein kinase cGMP-dependent 1
Band 10q11.23-q21.1
Other IDs Vega: OTTHUMG00000018248
OMIM: 176894
HGNC: HGNC:9414
Ensembl: ENSG00000185532
Other names PKG, cGK, AAT8, PKG1, cGK1, cGKI, cGK1, PRKG1B, PRKGR1B, cGKI-BETA, cGKI-alpha
Summary Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]

Individual #1

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

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;