No paralogue variants have been mapped to residue 2002 for RYR1.
RYR1 | NQRSRYGLLIKAFSMTAAETARRTREFRSP>P<QEQINMLLQFKDGTDEEDCPLPEEIRQDLL | 2032 |
RYR2 | NQRFRYNEVMQALNMSAALTARKTKEFRSP>P<QEQINMLLNFKD--DKSECPCPEEIRDQLL | 1997 |
RYR3 | NQKFRYNELMQALNMSAALTARKTKEFRSP>P<QEQINMLLNFQL--GE-NCPCPEEIREELY | 1897 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2002H | c.6005C>A | Putative Benign | SIFT: Polyphen: |