No paralogue variants have been mapped to residue 4494 for RYR1.
RYR1 | PPTPEGSP-ILKRKLGVDGVEEELPPEPEP>E<PEPELEPEKADAENGEKEEVPEPTPEPPKK | 4524 |
RYR2 | PVPMPE-V-QEKFQEQ--KA---KEEEKEE>K<EETKSEPEKAEGEDGEKEEKAKEDKGKQKL | 4462 |
RYR3 | EPPTLESTVQKKRKA---QA---AEMKAAN>E<AEGKVESEKADMEDGEKEDKDKEEEQAEYL | 4365 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4494K | c.13480G>A | Putative Benign | rs143849895 | SIFT: Polyphen: |