| Variant ID | 341 |
|---|---|
| Entrez Gene ID | 4627 |
| Gene | MYH9 (GeneCards) |
| Location | hg19 22:36680520-36680520
hg38 22:36284474-36284474 |
| Disease | May Hegglin anomaly (view all the variants in this disease) |
| Method | NA |
| Mutation(HGVS format) | NC_000022.10:g.36680520 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1841 |
| Amino acid changes in protein | E > K |
| Position in cDNA | 5521 |
| Changes in cDNA | C > T |
| mRNA accession | NM_002473.4 |
| mRNA length | 5883 |
| Reference length | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9491 |
| CADD Raw score (version 1.3) | 15.122139 (Deleterious) |
| FATHMM raw prediction score | 0.97149 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.57 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.575 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.334 |
| Deleterious probability by DeFine | 0.9635 (Deleterious) |
| Entrez Gene ID | 4627 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYH9 (GeneCards) |
| Number of variants in MYH9 in this database | 8 (view all the variants) |
| Full name | myosin heavy chain 9 |
| Band | 22q12.3 |
| Other IDs | Vega: OTTHUMG00000030429 OMIM: 160775 HGNC: HGNC:7579 Ensembl: ENSG00000100345 |
| Other names | MHA, FTNS, EPSTS, BDPLT6, DFNA17, MATINS, NMMHCA, NMHC-II-A, NMMHC-IIA |
| Summary | This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011] |
| Individual ID | 19208103.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 19208103 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | May Hegglin anomaly (view all the variants in this disease) |
| OMIM ID | 15510 |
| Pubmed ID | 19208103 |
|---|---|
| Title | Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents |
| Journal | British Journal of Haematology |
| Publication date | 2009.04 |
| Disease | May Hegglin anomaly |
| Number of cases | Female cases: 1; |