Disease-causing mutations in the human cardiac Regulatory Myosin Light Chain gene

hypertrophic cardiomyopathy mutations
MutationDiseaseposition in MYL2_genomic.fasUCSC hg17 positionexon/intron
Ala13ThrHCM15211098196842
Phe18LeuHCM15361098196692
Glu22LysHCM15481098196572
Asn47LysHCM49381098162673
Arg58GlnHCM63941098148114
Pro95AlaHCM73651098138405
Lys104GluHCM73921098138135
IVS5-2A>GHCM75351098136705
IVS6-1G>CHCM95051098117006
Asp166ValHCM96001098116057


Last modified: April 24, 2006