No paralogue variants have been mapped to residue 1975 for RYR1.
RYR1 | YFCDQELQHRVESLAAFAERYVDKLQANQR>S<RYGLLIKAFSMTAAETARRTREFRSPPQEQ | 2005 |
RYR2 | YLCDCQVRHRIEAIVAFSDDFVAKLQDNQR>F<RYNEVMQALNMSAALTARKTKEFRSPPQEQ | 1972 |
RYR3 | YLCDCELQHRVEAIVAFGDIYVSKLQANQK>F<RYNELMQALNMSAALTARKTKEFRSPPQEQ | 1873 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1975R | c.5925C>A | Putative Benign | rs141689968 | SIFT: Polyphen: benign | |
p.S1975R | c.5925C>G | Putative Benign | SIFT: Polyphen: |