No paralogue variants have been mapped to residue 1024 for RYR2.
RYR2 | AMVDKLAENAHNVWARDRIRQGWTYGIQQD>V<KNRRNPRLVPYTLLDDRTKKSNKDSLREAV | 1054 |
RYR1 | TLVDRLAENGHNVWARDRVGQGWSYSAVQD>I<PARRNPRLVPYRLLDEATKRSNRDSLCQAV | 1042 |
RYR3 | ILVDKLAENAHNVWAKDRIKQGWTYGIQQD>L<KNKRNPRLVPYALLDERTKKSNRDSLREAV | 1041 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1024A | c.3071T>C | Putative Benign | SIFT: Polyphen: | ||
p.V1024I | c.3070G>A | Unknown | SIFT: Polyphen: benign |