| Variant ID | 29833 |
|---|---|
| Entrez Gene ID | 3778 |
| Gene | KCNMA1 (GeneCards) |
| Location | hg19 10:78870005-78870005
hg38 10:77110247-77110247 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000010.10:g.78870005 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1349228 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.728 |
| CADD Raw score (version 1.3) | 6.850461 (Deleterious) |
| FATHMM raw prediction score | 0.97449 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.425 (Deleterious) |
| PROVEAN score | -0.87 (Tolerated) |
| MetaSVM score | 1.076 (Deleterious) |
| MetaLR score | 0.922 (Deleterious) |
| MCAP score | 0.699 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.47 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.898 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.319 |
| Deleterious probability by iFish2 | 0.2286 (Neutral) |
| Deleterious probability by DeFine | 0.9475 (Deleterious) |
| Entrez Gene ID | 3778 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNMA1 (GeneCards) |
| Number of variants in KCNMA1 in this database | 9 (view all the variants) |
| Full name | potassium calcium-activated channel subfamily M alpha 1 |
| Band | 10q22.3 |
| Other IDs | Vega: OTTHUMG00000018543 OMIM: 600150 HGNC: HGNC:6284 Ensembl: ENSG00000156113 |
| Other names | SLO, BKTM, SLO1, hSlo, MaxiK, PNKD3, SAKCA, mSLO1, CADEDS, KCa1.1, SLO-ALPHA, bA205K10.1 |
| Summary | MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.96 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |