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

hypertrophic cardiomyopathy mutations
MutationDiseaseposition in MYL3_genomic.fasUCSC hg17 positionexon/intron
Glu56GlyHCM3626468773103
Ala57GlyHCM3629468773073
Glu143LysHCM4913468760234
Met149ValHCM4931468760054
Arg154HisHCM4947468759894


Last modified: April 24, 2006