Variant "KCNH2:p.Ala1116Val"
Search result: 1 record
Variant information
Gene:
Variant:
KCNH2:p.Ala1116Val 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
Disorder:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered current amplitude(1)  
Detail:
  • Target disease:
    Arrhythmia (HP:0011675)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered current amplitude 
    Evidence:
    From review article 
    Effect:
    Coexpression of KCNH2-A1116V and KCNH2-K897T channels together resulted in significantly reduced current amplitude
    Reference:
    Title:
    The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why
    Species studied:
    Human
    Abstract:
    The discovery of pathogenic mutations primarily in genes encoding cardiac ion-channel proteins underlying the primary cardiac arrhythmia syndromes has had a remarkable impact on the management of these disorders, especially in patients with the long-QT syndrome. The availability of a genetic diagnostic test has added an important diagnostic tool, providing new opportunities for patient management such as early (presymptomatic) identification and treatment of patients at risk of developing fatal arrhythmias, risk stratification, and installation of gene-specific therapy. However, the fact that the identification of the causal mutation within a family allows diagnosis in other family members independently from the ECG features and arrhythmic manifestations quickly led to the recognition that extensive variability in clinical manifestations (e.g., extent of ECG abnormality and/or symptomatology) may be observed among family members carrying an identical mutation in a single ion channel gene. It is commonly held that this clinical variability stems from interactions between environmental and genetic modifiers with the particular pathogenic mutation. This Molecular Perspectives article reviews current knowledge on these modifiers of disease expression in the cardiac arrhythmia syndromes with particular reference to genetic modifiers.