No paralogue variants have been mapped to residue 1518 for RYR2.
RYR2 | AGESMSPGQ-G-RNNNGLEIGCVVDAASGL>L<TFIANGKELSTYYQVEPSTKLFPAVFAQAT | 1548 |
RYR1 | GGDFVSPGQQGRISHTDLVIGCLVDLATGL>M<TFTANGKESNTFFQVEPNTKLFPAVFVLPT | 1556 |
RYR3 | GGDIVASSQRSNRSNVDLEIGCLVDLAMGM>L<SFSANGKELGTCYQVEPNTKVFPAVFLQPT | 1452 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1518F | c.4552C>T | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | CPVT | Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861 |