Gene: anoctamin 5; ANO5


Gene Symbol: ANO5
OMIM: 608662
Chromosome location: 11p14.3

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Miyoshi muscular dystrophy 3 || c.191dupA

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

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANA2 patients/1familyNABouquet F et al., 2012Bouquet 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

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