No paralogue variants have been mapped to residue 4425 for RYR1.
RYR1 | QPAGPGGDADGEGASEGAGDAAEGAGDEEE>A<VHEAGPGGADGAVAVTDGGPFRPEGAGGLG | 4455 |
RYR2 | GEEGERKP-LEAALPSEDLTDLKELTEESD>L<LSD-----IFGLDLKREGGQYKLIPHNPNA | 4400 |
RYR3 | TMEAERAEVMEPGITTELVHFIKGEKGDTD>I<MSD-----LFGLHPKKEGS-LKHGPEVGLG | 4301 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4425E | c.13274C>A | Putative Benign | SIFT: Polyphen: |