No paralogue variants have been mapped to residue 1322 for RYR2.
RYR2 | QNSNTDIMFYRLSMPIECAEVFSKTV-AGG>L<PGAGLFGPK-NDLEDYDADSDFEVLMKTAH | 1351 |
RYR1 | QNSLVEMLFLRLSLPVQFHQHFRCTAGATP>L<APPGLQPPAEDEARAAEPDPDYENLRRSAG | 1339 |
RYR3 | QNSNADMIYCRLSMPVECHSSFSH------>-<------------------------------ | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1322P | c.3965T>C | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.Leu1322Ile | c.3964C>A | Unknown | SIFT: Polyphen: |