No paralogue variants have been mapped to residue 2552 for RYR1.
RYR1 | LDVGFLPDMRAAASLDTATFSTTEMALALN>R<YLCLAVLPLITKCAPLFAGTEHRAIMVDSM | 2582 |
RYR2 | LEVGFLPDLRAAASLDTAALSATDMALALN>R<YLCTAVLPLLTRCAPLFAGTEHHASLIDSL | 2548 |
RYR3 | LEVGFLPDLRASASLDTVSLSTTEAALALN>R<YICSAVLPLLTRCAPLFAGTEHCTSLIDST | 2445 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2552C | c.7654C>T | Putative Benign | SIFT: Polyphen: |