No paralogue variants have been mapped to residue 4514 for RYR2.
RYR2 | IIAYQQKLLNYFARNFYNMRMLALFVAFAI>N<FILLFYKVSTSSVVEGKE------LPTRSS | 4538 |
RYR1 | LEVQRVKFLNYLSRNFYTLRFLALFLAFAI>N<FILLFYKVSDSPPGEDDMEGSAAGDVSGAG | 4605 |
RYR3 | LEIYQTKLLHYLARNFYNLRFLALFVAFAI>N<FILLFYKVTEEPLEEETE------DVANLW | 4449 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N4514S | c.13541A>G | Unknown | SIFT: Polyphen: | ||
Reports | Unknown | The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780 |