No paralogue variants have been mapped to residue 3526 for RYR1.
RYR1 | KKRRGDRYSVQTSLIVATLKKMLPIGLNMC>A<PTDQDLITLAKTRYALKDTDEEVREFLHNN | 3556 |
RYR2 | MKRKGDRYSMQTSLIVAALKRLLPIGLNIC>A<PGDQELIALAKNRFSLKDTEDEVRDIIRSN | 3512 |
RYR3 | TKRRGDLYSIQTSLIVAALKKMLPIGLNMC>T<PGDQELISLAKSRYSHRDTDEEVREHLRNN | 3413 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A3526V | c.10577C>T | Putative Benign | rs374061380 | SIFT: tolerated Polyphen: benign |