No paralogue variants have been mapped to residue 2041 for RYR1.
RYR1 | QFKDGTDEEDCPLPEEIRQDLLDFHQDLLA>H<CGIQLDGEEEEP--EEETTLGSRLMSLLEK | 2069 |
RYR2 | NFKD--DKSECPCPEEIRDQLLDFHEDLMT>H<CGIELDEDG-SLDGNSDLTIRGRLLSLVEK | 2035 |
RYR3 | NFQL--GE-NCPCPEEIREELYDFHEDLLL>H<CGVPLEEEE-EE--EEDTSWTGKLCALVYK | 1933 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H2041Y | c.6121C>T | Putative Benign | SIFT: Polyphen: |