No paralogue variants have been mapped to residue 2492 for RYR2.
RYR2 | PDHKAAMVLFLDRVYGIEVQDFLLHLLEVG>F<LPDLRAAASLDTAALSATDMALALNRYLCT | 2522 |
RYR1 | PDHKASMVLFLDRVYGIENQDFLLHVLDVG>F<LPDMRAAASLDTATFSTTEMALALNRYLCL | 2556 |
RYR3 | PDHKAPMVLFLDRVYGIKDQTFLLHLLEVG>F<LPDLRASASLDTVSLSTTEAALALNRYICS | 2419 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F2492S | c.7475T>C | Putative Benign | SIFT: Polyphen: |