No paralogue variants have been mapped to residue 3482 for RYR2.
RYR2 | MKRKGDRYSMQTSLIVAALKRLLPIGLNIC>A<PGDQELIALAKNRFSLKDTEDEVRDIIRSN | 3512 |
RYR1 | KKRRGDRYSVQTSLIVATLKKMLPIGLNMC>A<PTDQDLITLAKTRYALKDTDEEVREFLHNN | 3556 |
RYR3 | TKRRGDLYSIQTSLIVAALKKMLPIGLNMC>T<PGDQELISLAKSRYSHRDTDEEVREHLRNN | 3413 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A3482T | c.10444G>A | Putative Benign | SIFT: Polyphen: | ||
p.A3482S | c.10444G>T | Putative Benign | SIFT: Polyphen: |