No paralogue variants have been mapped to residue 1312 for RYR1.
RYR1 | LVEMLFLRLSLPVQFHQHFRCTAGATPLAP>P<GLQPPAEDEARAAEPDPDYENLRRSAGGWS | 1342 |
RYR2 | NTDIMFYRLSMPIECAEVFSKTV-AGGLPG>A<GLFGPK-NDLEDYDADSDFEVLMKTAHGHL | 1354 |
RYR3 | NADMIYCRLSMPVECHSSFSH--------->-<------------------------------ | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1312L | c.3935C>T | Putative Benign | SIFT: Polyphen: |