Gene Symbol: ANO5
OMIM: 608662Chromosome location: 11p14.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Miyoshi muscular dystrophy 3 |
|---|
| Dna Change: | c.191dupA |
|---|
| Protein Change: | p.Asn64Lysfs |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 5 |
|---|
| Transcript: | NM_213599.2 |
|---|
References
Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B, Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.Rev. Neurol. (Paris). 2012; 168(2):135-41