No paralogue variants have been mapped to residue 3542 for RYR1.
RYR1 | ATLKKMLPIGLNMCAPTDQDLITLAKTRYA>L<KDTDEEVREFLHNNLHLQGKVEGSPSLRWQ | 3572 |
RYR2 | AALKRLLPIGLNICAPGDQELIALAKNRFS>L<KDTEDEVRDIIRSNIHLQGKLE-DPAIRWQ | 3527 |
RYR3 | AALKKMLPIGLNMCTPGDQELISLAKSRYS>H<RDTDEEVREHLRNNLHLQEKSD-DPAVKWQ | 3428 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3542M | c.10624C>A | Putative Benign | SIFT: Polyphen: |