No paralogue variants have been mapped to residue 1946 for RYR2.
RYR2 | CQVRHRIEAIVAFSDDFVAKLQDNQRFRYN>E<VMQALNMSAALTARKTKEFRSPPQEQINML | 1976 |
RYR1 | QELQHRVESLAAFAERYVDKLQANQRSRYG>L<LIKAFSMTAAETARRTREFRSPPQEQINML | 2009 |
RYR3 | CELQHRVEAIVAFGDIYVSKLQANQKFRYN>E<LMQALNMSAALTARKTKEFRSPPQEQINML | 1877 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1946K | c.5836G>A | Putative Benign | rs267598436 | SIFT: tolerated Polyphen: possibly damaging |