No paralogue variants have been mapped to residue 1966 for RYR1.
RYR1 | KLQMCHLLEYFCDQELQHRVESLAAFAERY>V<DKLQANQRSRYGLLIKAFSMTAAETARRTR | 1996 |
RYR2 | KLQMCLLLQYLCDCQVRHRIEAIVAFSDDF>V<AKLQDNQRFRYNEVMQALNMSAALTARKTK | 1963 |
RYR3 | KLQMCELLSYLCDCELQHRVEAIVAFGDIY>V<SKLQANQKFRYNELMQALNMSAALTARKTK | 1864 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1966M | c.5896G>A | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |