No paralogue variants have been mapped to residue 4489 for RYR1.
RYR1 | TTPAEPPTPEGSP-ILKRKLGVDGVEEELP>P<EPEPEPEPELEPEKADAENGEKEEVPEPTP | 4519 |
RYR2 | LMSN-PVPMPE-V-QEKFQEQ--KA---KE>E<EKEEKEETKSEPEKAEGEDGEKEEKAKEDK | 4457 |
RYR3 | IIGKDEPPTLESTVQKKRKA---QA---AE>M<KAANEAEGKVESEKADMEDGEKEDKDKEEE | 4360 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4489S | c.13465C>T | Putative Benign | SIFT: Polyphen: |