| Variant ID | 891 |
|---|---|
| Entrez Gene ID | 5522 |
| Gene | PPP2R2C (GeneCards) |
| Location | hg19 4:6374292-6374292
hg38 4:6372565-6372565 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.6374292 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 178 |
| Amino acid changes in protein | R > C |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4784833 |
| Variant occurences in COSMIC | 2(large_intestine) |
| EIGEN score | 0.5947 |
| CADD Raw score (version 1.3) | 6.974647 (Deleterious) |
| FATHMM raw prediction score | 0.80727 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.36 (Deleterious) |
| PROVEAN score | -7.09 (Deleterious) |
| MetaSVM score | -0.758 (Tolerated) |
| MetaLR score | 0.184 (Tolerated) |
| MCAP score | 0.081 (Deleterious) |
| FitCons score | 0.737 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.18 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.924 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.978 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.948 |
| Deleterious probability by iFish2 | 0.9787 (Deleterious) |
| Deleterious probability by DeFine | 0.9623 (Deleterious) |
| Entrez Gene ID | 5522 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPP2R2C (GeneCards) |
| Number of variants in PPP2R2C in this database | 1 (view all the variants) |
| Full name | protein phosphatase 2 regulatory subunit Bgamma |
| Band | 4p16.1 |
| Other IDs | Vega: OTTHUMG00000090445 OMIM: 605997 HGNC: HGNC:9306 Ensembl: ENSG00000074211 |
| Other names | PR52, PR55G, IMYPNO, IMYPNO1, B55gamma, B55-GAMMA |
| Summary | The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |