No paralogue variants have been mapped to residue 4676 for RYR2.
RYR2 | DKFVKRKVMDKYGEFYGRDRISELLGMDKA>A<LDFSDAREKKKPKKDSSLSAVLNSIDVKYQ | 4706 |
RYR1 | DKFVKRKVLDKHGDIYGRERIAELLGMDLA>T<LEITAHNER-KPNPPPGLLTWLMSIDVKYQ | 4777 |
RYR3 | DKFVKRKVINKYGDLYGAERIAELLGLDKN>A<LDFSPVEET-KA-EAASLVSWLSSIDMKYH | 4609 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4676S | c.14026G>T | Putative Benign | SIFT: Polyphen: |