No paralogue variants have been mapped to residue 1934 for RYR2.
RYR2 | LQMCLLLQYLCDCQVRHRIEAIVAFSDDFV>A<KLQDNQRFRYNEVMQALNMSAALTARKTKE | 1964 |
RYR1 | LQMCHLLEYFCDQELQHRVESLAAFAERYV>D<KLQANQRSRYGLLIKAFSMTAAETARRTRE | 1997 |
RYR3 | LQMCELLSYLCDCELQHRVEAIVAFGDIYV>S<KLQANQKFRYNELMQALNMSAALTARKTKE | 1865 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1934V | c.5801C>T | Putative Benign | rs368009389 | SIFT: tolerated Polyphen: benign |