No paralogue variants have been mapped to residue 3498 for RYR2.
RYR2 | AALKRLLPIGLNICAPGDQELIALAKNRFS>L<KDTEDEVRDIIRSNIHLQGKLE-DPAIRWQ | 3527 |
RYR1 | ATLKKMLPIGLNMCAPTDQDLITLAKTRYA>L<KDTDEEVREFLHNNLHLQGKVEGSPSLRWQ | 3572 |
RYR3 | AALKKMLPIGLNMCTPGDQELISLAKSRYS>H<RDTDEEVREHLRNNLHLQEKSD-DPAVKWQ | 3428 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3498V | c.10492C>G | Putative Benign | SIFT: tolerated Polyphen: benign |