No paralogue variants have been mapped to residue 2001 for RYR1.
RYR1 | ANQRSRYGLLIKAFSMTAAETARRTREFRS>P<PQEQINMLLQFKDGTDEEDCPLPEEIRQDL | 2031 |
RYR2 | DNQRFRYNEVMQALNMSAALTARKTKEFRS>P<PQEQINMLLNFKD--DKSECPCPEEIRDQL | 1996 |
RYR3 | ANQKFRYNELMQALNMSAALTARKTKEFRS>P<PQEQINMLLNFQL--GE-NCPCPEEIREEL | 1896 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2001L | c.6002C>T | Putative Benign | SIFT: Polyphen: |