No paralogue variants have been mapped to residue 166 for RYR2.
RYR2 | SRSSTDKLAFDVGLQEDTTGEACWWTIHPA>S<KQRSEGEKVRVGDDLILVSVSSERYLHLSY | 196 |
RYR1 | SRSMTDKLAFDVGLQEDATGEACWWTMHPA>S<KQRSEGEKVRVGDDIILVSVSSERYLHLST | 183 |
RYR3 | SRSQTDKLAFDVGLREHATGEACWWTIHPA>S<KQRSEGEKVRIGDDLILVSVSSERYLHLSV | 186 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S166C | c.497C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS One. 2015 10(7):e0130329. doi: 10.1371/journal.pone.0130329. 26132555 |