No paralogue variants have been mapped to residue 1454 for RYR1.
RYR1 | EIILNTTTYYYSVRVFAGQEPSCVWAGWVT>P<DYHQHDMSFDLSKVRVVTVTMGDEQGNVHS | 1484 |
RYR2 | FLMQT-STYYYSVRIFPGQEPANVWVGWIT>S<DFHQYDTGFDLDRVRTVTVTLGDEKGKVHE | 1478 |
RYR3 | ILSHTTTQCYYAIRIFAGQDPSCVWVGWVT>P<DYHLYSEKFDLNKNCTVTVTLGDERGRVHE | 1380 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1454L | c.4361C>T | Putative Benign | rs149737658 | SIFT: Polyphen: probably damaging |