No paralogue variants have been mapped to residue 2543 for RYR2.
RYR2 | ALALNRYLCTAVLPLLTRCAPLFAGTEHHA>S<LIDSLLHTVYRLSKGCSLTKAQRDSIEVCL | 2573 |
RYR1 | ALALNRYLCLAVLPLITKCAPLFAGTEHRA>I<MVDSMLHTVYRLSRGRSLTKAQRDVIEDCL | 2607 |
RYR3 | ALALNRYICSAVLPLLTRCAPLFAGTEHCT>S<LIDSTLQTIYRLSKGRSLTKAQRDTIEECL | 2470 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2543F | c.7628C>T | Putative Benign | SIFT: Polyphen: |