KEGG   VARIANT: 85366v1
Entry
85366v1                      Variant                               
Name
MYLK2 mutation
Type
Gain of function
Gene
MYLK2  myosin light chain kinase 2 [KO:K00907]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606566
Network
nt06528  Calcium signaling
Disease
H00292  Hypertrophic cardiomyopathy
Reference
PMID:11733062
  Authors
Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND
  Title
The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.
  Journal
Cell 107:631-41 (2001)
DOI:10.1016/s0092-8674(01)00586-4
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