| Variant ID | 910 |
|---|---|
| Entrez Gene ID | 3737 |
| Gene | KCNA2 (GeneCards) |
| Location | hg19 1:111146070-111146070
hg38 1:110603448-110603448 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.111146070 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 445 |
| Amino acid changes in protein | K > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.6446 |
| CADD Raw score (version 1.3) | 0.554774 (Deleterious) |
| FATHMM raw prediction score | 0.98946 (Tolerated) |
| Deleterious probability by DeFine | 0.9536 (Deleterious) |
| Entrez Gene ID | 3737 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNA2 (GeneCards) |
| Number of variants in KCNA2 in this database | 2 (view all the variants) |
| Full name | potassium voltage-gated channel subfamily A member 2 |
| Band | 1p13.3 |
| Other IDs | Vega: OTTHUMG00000011567 OMIM: 176262 HGNC: HGNC:6220 Ensembl: ENSG00000177301 |
| Other names | HK4, MK2, HBK5, NGK1, RBK2, HUKIV, KV1.2, EIEE32 |
| Summary | Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [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; |