KEGG   VARIANT: 4633v1
Entry
4633v1                      Variant                                
Name
MYL2 mutation
Type
Loss of function
Gene
MYL2  myosin light chain 2 [KO:K10351]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 160781
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H00595  Myofibrillar myopathies
Reference
PMID:12404107
  Authors
Kabaeva ZT, Perrot A, Wolter B, Dietz R, Cardim N, Correia JM, Schulte HD, Aldashev AA, Mirrakhimov MM, Osterziel KJ
  Title
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
  Journal
Eur J Hum Genet 10:741-8 (2002)
DOI:10.1038/sj.ejhg.5200872
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