No paralogue variants have been mapped to residue 4422 for RYR1.
RYR1 | HGEQPAGPGGDADGEGASEGAGDAAEGAGD>E<EEAVHEAGPGGADGAVAVTDGGPFRPEGAG | 4452 |
RYR2 | RGDGEEGERKP-LEAALPSEDLTDLKELTE>E<SDLLSD-----IFGLDLKREGGQYKLIPHN | 4397 |
RYR3 | HDDTMEAERAEVMEPGITTELVHFIKGEKG>D<TDIMSD-----LFGLHPKKEGS-LKHGPEV | 4298 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4422D | c.13266G>C | Putative Benign | SIFT: Polyphen: |