No paralogue variants have been mapped to residue 99 for RYR1.
RYR1 | LANTVEAG--V---E-------SSQGGGHR>T<LLYGHAILLRHAHSRMYLSCLTTSRSMTDK | 129 |
RYR2 | LANTVEKSEGQVDVEKWKFMMKTAQGGGHR>T<LLYGHAILLRHSYSGMYLCCLSTSRSSTDK | 142 |
RYR3 | LANTGENG-GE---G-------AAQGGGHR>T<LLYGHAVLLRHSFSGMYLTCLTTSRSQTDK | 132 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T99M | c.296C>T | Putative Benign | rs371406719 | SIFT: deleterious Polyphen: probably damaging |