KEGG   VARIANT: 801v1
Entry
801v1                      Variant                                 
Name
CALM1 mutation
Type
Loss of function
Gene
CALM1  calmodulin 1 [KO:K02183]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114180
Network
nt06528  Calcium signaling
Disease
H00720  Long QT syndrome
H01019  Catecholaminergic polymorphic ventricular tachycardia
Reference
PMID:32115705
  Authors
Wleklinski MJ, Kannankeril PJ, Knollmann BC
  Title
Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia.
  Journal
J Physiol 598:2817-2834 (2020)
DOI:10.1113/JP276757
Reference
PMID:36496072
  Authors
Prakash O, Gupta N, Milburn A, McCormick L, Deugi V, Fisch P, Wyles J, Thomas NL, Antonyuk S, Dart C, Helassa N
  Title
Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIdelta autophosphorylation and L-type calcium channel inactivation.
  Journal
J Biol Chem 299:102777 (2023)
DOI:10.1016/j.jbc.2022.102777
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