No paralogue variants have been mapped to residue 1895 for RYR2.
RYR2 | --VDDAK-LQGAGEE--EAKGGKRPKEGLL>Q<MKLPEPVKLQMCLLLQYLCDCQVRHRIEAI | 1925 |
RYR1 | ETAQEKEDEEKEEEEAAEGEKEEGLEEGLL>Q<MKLPESVKLQMCHLLEYFCDQELQHRVESL | 1958 |
RYR3 | --VEEKA-VEAG-----EKAGKEAPVKGLL>Q<TRLPESVKLQMCELLSYLCDCELQHRVEAI | 1826 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1895K | c.5683C>A | Putative Benign | rs79660660 | SIFT: deleterious Polyphen: benign |