Paralogue Annotation for RYR2 residue 419
Residue detailsGene: RYR2Reference Sequences:
, Ensembl variant:
ENSP00000355533Amino Acid Position:
419Reference Amino Acid:
I - IsoleucineProtein Domain:
Paralogue Variants mapped to RYR2 residue 419
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to
check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing.
It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR2.
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Known Variants in RYR2
|Protein||CDS||Disease Classification||Disease||dbSNP links||Effect Prediction|
||Inherited Arrhythmia||CPVT||SIFT: deleterious|
Polyphen: possibly damaging
||Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24.
||New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118.