No paralogue variants have been mapped to residue 1978 for RYR2.
RYR2 | MQALNMSAALTARKTKEFRSPPQEQINMLL>N<FKD--DKSECPCPEEIRDQLLDFHEDLMTH | 2006 |
RYR1 | IKAFSMTAAETARRTREFRSPPQEQINMLL>Q<FKDGTDEEDCPLPEEIRQDLLDFHQDLLAH | 2041 |
RYR3 | MQALNMSAALTARKTKEFRSPPQEQINMLL>N<FQL--GE-NCPCPEEIREELYDFHEDLLLH | 1906 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N1978S | c.5933A>G | Putative Benign | SIFT: Polyphen: |