No paralogue variants have been mapped to residue 32 for RYR1.
RYR1 | -AE-GEDEVQFLRTDDEVVLQCSATVLKEQ>L<KLCLAAEGFGNRLCFLEPTSNAQNVPPDLA | 62 |
RYR2 | GGE-GEDEIQFLRTDDEVVLQCTATIHKEQ>Q<KLCLAAEGFGNRLCFLESTSNSKNVPPDLS | 63 |
RYR3 | GGEGGEDEIQFLRTEDEVVLQCIATIHKEQ>R<KFCLAAEGLGNRLCFLEPTSEAKYIPPDLC | 64 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L32F | c.94C>T | Putative Benign | rs138630815 | SIFT: Polyphen: probably damaging |