No paralogue variants have been mapped to residue 3144 for RYR2.
RYR2 | QHQFGEDLILEDVQVSCYRILTSLYALGTS>K<SIYVERQRSALGECLAAFAGAFPVAFLETH | 3174 |
RYR1 | QHQFGDDVILDDVQVSCYRTLCSIYSLGTT>K<NTYVEKLRPALGECLARLAAAMPVAFLEPQ | 3209 |
RYR3 | QHQFGMDLLLGDVQISCYHILCSLYSLGTG>K<NIYVERQRPALGECLASLAAAIPVAFLEPT | 3070 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K3144E | c.9430A>G | Putative Benign | SIFT: Polyphen: |