No paralogue variants have been mapped to residue 1867 for RYR2.
RYR2 | LQLIEPSVFKEAATPEEESDTL--E-K--->E<LS----VDDAK-LQGAGEE--EAKGGKRPK | 1890 |
RYR1 | LKMIEPEVFTEEEEEEDEEEEGEEEDEEEK>E<EDEEETAQEKEDEEKEEEEAAEGEKEEGLE | 1923 |
RYR3 | LLLIDPSVFGEHSAGTEEGAEK--E-E--->V<TQ----VEEKA-VEAG-----EKAGKEAPV | 1791 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1867V | c.5600A>T | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.E1867A | c.5600A>C | Putative Benign | SIFT: Polyphen: |