No paralogue variants have been mapped to residue 4746 for RYR1.
RYR1 | YWDKFVKRKVLDKHGDIYGRERIAELLGMD>L<ATLEITAHNER-KPNPPPGLLTWLMSIDVK | 4775 |
RYR2 | YWDKFVKRKVMDKYGEFYGRDRISELLGMD>K<AALDFSDAREKKKPKKDSSLSAVLNSIDVK | 4704 |
RYR3 | YWDKFVKRKVINKYGDLYGAERIAELLGLD>K<NALDFSPVEET-KA-EAASLVSWLSSIDMK | 4607 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4746M | c.14236C>A | Putative Benign | SIFT: Polyphen: |