No paralogue variants have been mapped to residue 2549 for RYR1.
RYR1 | LHVLDVGFLPDMRAAASLDTATFSTTEMAL>A<LNRYLCLAVLPLITKCAPLFAGTEHRAIMV | 2579 |
RYR2 | LHLLEVGFLPDLRAAASLDTAALSATDMAL>A<LNRYLCTAVLPLLTRCAPLFAGTEHHASLI | 2545 |
RYR3 | LHLLEVGFLPDLRASASLDTVSLSTTEAAL>A<LNRYICSAVLPLLTRCAPLFAGTEHCTSLI | 2442 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2549V | c.7646C>T | Putative Benign | SIFT: Polyphen: |