No paralogue variants have been mapped to residue 3185 for RYR1.
RYR1 | DVILDDVQVSCYRTLCSIYSLGTTKNTYVE>K<LRPALGECLARLAAAMPVAFLEPQLNEYNA | 3215 |
RYR2 | DLILEDVQVSCYRILTSLYALGTSKSIYVE>R<QRSALGECLAAFAGAFPVAFLETHLDKHNI | 3180 |
RYR3 | DLLLGDVQISCYHILCSLYSLGTGKNIYVE>R<QRPALGECLASLAAAIPVAFLEPTLNRYNP | 3076 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K3185N | c.9555G>C | Putative Benign | rs201080180 | SIFT: Polyphen: benign | |
p.K3185E | c.9553A>G | Putative Benign | SIFT: Polyphen: |