No paralogue variants have been mapped to residue 2559 for RYR1.
RYR1 | DMRAAASLDTATFSTTEMALALNRYLCLAV>L<PLITKCAPLFAGTEHRAIMVDSMLHTVYRL | 2589 |
RYR2 | DLRAAASLDTAALSATDMALALNRYLCTAV>L<PLLTRCAPLFAGTEHHASLIDSLLHTVYRL | 2555 |
RYR3 | DLRASASLDTVSLSTTEAALALNRYICSAV>L<PLLTRCAPLFAGTEHCTSLIDSTLQTIYRL | 2452 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2559Q | c.7676T>A | Putative Benign | rs139564550 | SIFT: Polyphen: benign |