No paralogue variants have been mapped to residue 4478 for RYR1.
RYR1 | EGAGGLGDMGDTTPAEPPTPEGSP-ILKRK>L<GVDGVEEELPPEPEPEPEPELEPEKADAEN | 4508 |
RYR2 | IPHNPNAGLSDLMSN-PVPMPE-V-QEKFQ>E<Q--KA---KEEEKEEKEETKSEPEKAEGED | 4446 |
RYR3 | GPEVGLGDLSEIIGKDEPPTLESTVQKKRK>A<---QA---AEMKAANEAEGKVESEKADMED | 4349 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4478W | c.13433T>G | Putative Benign | SIFT: tolerated Polyphen: |