No paralogue variants have been mapped to residue 2540 for RYR2.
RYR2 | TDMALALNRYLCTAVLPLLTRCAPLFAGTE>H<HASLIDSLLHTVYRLSKGCSLTKAQRDSIE | 2570 |
RYR1 | TEMALALNRYLCLAVLPLITKCAPLFAGTE>H<RAIMVDSMLHTVYRLSRGRSLTKAQRDVIE | 2604 |
RYR3 | TEAALALNRYICSAVLPLLTRCAPLFAGTE>H<CTSLIDSTLQTIYRLSKGRSLTKAQRDTIE | 2467 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H2540R | c.7619A>G | Putative Benign | rs200105499 | SIFT: deleterious Polyphen: possibly damaging |