No paralogue variants have been mapped to residue 2003 for RYR1.
RYR1 | QRSRYGLLIKAFSMTAAETARRTREFRSPP>Q<EQINMLLQFKDGTDEEDCPLPEEIRQDLLD | 2033 |
RYR2 | QRFRYNEVMQALNMSAALTARKTKEFRSPP>Q<EQINMLLNFKD--DKSECPCPEEIRDQLLD | 1998 |
RYR3 | QKFRYNELMQALNMSAALTARKTKEFRSPP>Q<EQINMLLNFQL--GE-NCPCPEEIREELYD | 1898 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q2003R | c.6008A>G | Putative Benign | SIFT: Polyphen: |