No paralogue variants have been mapped to residue 5037 for RYR1.
RYR1 | QESYVWKMYQERCWDFFPAGDCFRKQYEDQ>L<S | 5038 |
RYR2 | QESYVWKMYQERCWEFFPAGDCFRKQYEDQ>L<N | 4967 |
RYR3 | QESYVWKMYQERCWDFFPAGDCFRKQYEDQ>L<G | 4870 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L5037F | c.15109C>T | Putative Benign | rs140584202 | SIFT: Polyphen: |