No paralogue variants have been mapped to residue 1317 for RYR1.
RYR1 | FLRLSLPVQFHQHFRCTAGATPLAPPGLQP>P<AEDEARAAEPDPDYENLRRSAGGWSEAENG | 1347 |
RYR2 | FYRLSMPIECAEVFSKTV-AGGLPGAGLFG>P<K-NDLEDYDADSDFEVLMKTAHGHLVPDRV | 1359 |
RYR3 | YCRLSMPVECHSSFSH-------------->-<------------------------------ | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1317L | c.3950C>T | Putative Benign | SIFT: Polyphen: |