| Variant ID | 956 |
|---|---|
| Entrez Gene ID | 5256 |
| Gene | PHKA2 (GeneCards) |
| Location | hg19 X:18911751-18911751
hg38 X:18893633-18893633 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.18911751 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1187 |
| Amino acid changes in protein | T > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 1.318202 (Deleterious) |
| FATHMM raw prediction score | 0.2344 (Tolerated) |
| SIFT score | 0.344 (Tolerated) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 0.999 (Tolerated) |
| MutatioinAssessor score | 0.66 (Tolerated) |
| PROVEAN score | -1.1 (Tolerated) |
| MetaSVM score | -0.544 (Tolerated) |
| MetaLR score | 0.53 (Deleterious) |
| MCAP score | 0.337 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.02 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.035 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.986 |
| Deleterious probability by iFish2 | 0.0407 (Neutral) |
| Deleterious probability by DeFine | 0.9325 (Deleterious) |
| Entrez Gene ID | 5256 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PHKA2 (GeneCards) |
| Number of variants in PHKA2 in this database | 1 (view all the variants) |
| Full name | phosphorylase kinase regulatory subunit alpha 2 |
| Band | Xp22.13 |
| Other IDs | Vega: OTTHUMG00000021222 OMIM: 300798 HGNC: HGNC:8926 Ensembl: ENSG00000044446 |
| Other names | PHK, PYK, XLG, PYKL, XLG2, GSD9A |
| Summary | Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010] |
| 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; |