No paralogue variants have been mapped to residue 4424 for RYR1.
RYR1 | EQPAGPGGDADGEGASEGAGDAAEGAGDEE>E<AVHEAGPGGADGAVAVTDGGPFRPEGAGGL | 4454 |
RYR2 | DGEEGERKP-LEAALPSEDLTDLKELTEES>D<LLSD-----IFGLDLKREGGQYKLIPHNPN | 4399 |
RYR3 | DTMEAERAEVMEPGITTELVHFIKGEKGDT>D<IMSD-----LFGLHPKKEGS-LKHGPEVGL | 4300 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Glu4424Ala | c.13271A>C | Unknown | SIFT: Polyphen: |