No paralogue variants have been mapped to residue 4051 for RYR2.
RYR2 | LKLKDLTSSDTFKEYDPDGKGVISKRDFHK>A<MESHKHYTQSETEFLLSCAETDENETLDYE | 4081 |
RYR1 | LKLKDIVGSEAFQDYVTDPRGLISKKDFQK>A<MDSQKQFSGPEIQFLLSCSEADENEMINCE | 4125 |
RYR3 | LKLKDLTSSDTFKEYDPDGKGIISKKEFQK>A<MEGQKQYTQSEIDFLLSCAEADENDMFNYV | 3977 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4051V | c.12152C>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging |