No paralogue variants have been mapped to residue 1942 for RYR2.
RYR2 | YLCDCQVRHRIEAIVAFSDDFVAKLQDNQR>F<RYNEVMQALNMSAALTARKTKEFRSPPQEQ | 1972 |
RYR1 | YFCDQELQHRVESLAAFAERYVDKLQANQR>S<RYGLLIKAFSMTAAETARRTREFRSPPQEQ | 2005 |
RYR3 | YLCDCELQHRVEAIVAFGDIYVSKLQANQK>F<RYNELMQALNMSAALTARKTKEFRSPPQEQ | 1873 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1942L | c.5824T>C | Putative Benign | rs368669045 | SIFT: tolerated Polyphen: possibly damaging | |
p.F1942C | c.5825T>G | Putative Benign | SIFT: Polyphen: |