No paralogue variants have been mapped to residue 4957 for RYR2.
RYR2 | NKDETEHTGQESYVWKMYQERCWEFFPAGD>C<FRKQYEDQLN | 4967 |
RYR1 | NKDETEHTGQESYVWKMYQERCWDFFPAGD>C<FRKQYEDQLS | 5038 |
RYR3 | NKDETEHTGQESYVWKMYQERCWDFFPAGD>C<FRKQYEDQLG | 4870 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C4957S | c.14869T>A | Putative Benign | SIFT: Polyphen: |