No paralogue variants have been mapped to residue 114 for RYR2.
RYR2 | NTVEKSEGQVDVEKWKFMMKTAQGGGHRTL>L<YGHAILLRHSYSGMYLCCLSTSRSSTDKLA | 144 |
RYR1 | NTVEAG--V---E-------SSQGGGHRTL>L<YGHAILLRHAHSRMYLSCLTTSRSMTDKLA | 131 |
RYR3 | NTGENG-GE---G-------AAQGGGHRTL>L<YGHAVLLRHSFSGMYLTCLTTSRSQTDKLA | 134 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L114V | c.340C>G | Putative Benign | SIFT: Polyphen: |