No paralogue variants have been mapped to residue 4432 for RYR2.
RYR2 | PVPMPE-V-QEKFQEQ--KA---KEEEKEE>K<EETKSEPEKAEGEDGEKEEKAKEDKGKQKL | 4462 |
RYR1 | PPTPEGSP-ILKRKLGVDGVEEELPPEPEP>E<PEPELEPEKADAENGEKEEVPEPTPEPPKK | 4524 |
RYR3 | EPPTLESTVQKKRKA---QA---AEMKAAN>E<AEGKVESEKADMEDGEKEDKDKEEEQAEYL | 4365 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K4432Q | c.13294A>C | Putative Benign | SIFT: Polyphen: |