No paralogue variants have been mapped to residue 1976 for RYR1.
RYR1 | FCDQELQHRVESLAAFAERYVDKLQANQRS>R<YGLLIKAFSMTAAETARRTREFRSPPQEQI | 2006 |
RYR2 | LCDCQVRHRIEAIVAFSDDFVAKLQDNQRF>R<YNEVMQALNMSAALTARKTKEFRSPPQEQI | 1973 |
RYR3 | LCDCELQHRVEAIVAFGDIYVSKLQANQKF>R<YNELMQALNMSAALTARKTKEFRSPPQEQI | 1874 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1976G | c.5926C>G | Putative Benign | SIFT: Polyphen: | ||
p.R1976L | c.5927G>T | Putative Benign | SIFT: Polyphen: |