No paralogue variants have been mapped to residue 27 for RYR1.
RYR1 | MGD-AE-GEDEVQFLRTDDEVVLQCSAT>V<LKEQLKLCLAAEGFGNRLCFLEPTSNAQNV | 57 |
RYR2 | MADGGE-GEDEIQFLRTDDEVVLQCTAT>I<HKEQQKLCLAAEGFGNRLCFLESTSNSKNV | 58 |
RYR3 | MAEGGEGGEDEIQFLRTEDEVVLQCIAT>I<HKEQRKFCLAAEGLGNRLCFLEPTSEAKYI | 59 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V27M | c.79G>A | Putative Benign | rs143481004 | SIFT: Polyphen: probably damaging |