No paralogue variants have been mapped to residue 2499 for RYR2.
RYR2 | VLFLDRVYGIEVQDFLLHLLEVGFLPDLRA>A<ASLDTAALSATDMALALNRYLCTAVLPLLT | 2529 |
RYR1 | VLFLDRVYGIENQDFLLHVLDVGFLPDMRA>A<ASLDTATFSTTEMALALNRYLCLAVLPLIT | 2563 |
RYR3 | VLFLDRVYGIKDQTFLLHLLEVGFLPDLRA>S<ASLDTVSLSTTEAALALNRYICSAVLPLLT | 2426 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2499T | c.7495G>A | Putative Benign | rs191850147 | SIFT: deleterious Polyphen: probably damaging |