No paralogue variants have been mapped to residue 1974 for RYR2.
RYR2 | YNEVMQALNMSAALTARKTKEFRSPPQEQI>N<MLLNFKD--DKSECPCPEEIRDQLLDFHED | 2002 |
RYR1 | YGLLIKAFSMTAAETARRTREFRSPPQEQI>N<MLLQFKDGTDEEDCPLPEEIRQDLLDFHQD | 2037 |
RYR3 | YNELMQALNMSAALTARKTKEFRSPPQEQI>N<MLLNFQL--GE-NCPCPEEIREELYDFHED | 1902 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N1974H | c.5920A>C | Putative Benign | SIFT: tolerated Polyphen: benign |