No paralogue variants have been mapped to residue 4751 for RYR1.
RYR1 | VKRKVLDKHGDIYGRERIAELLGMDLATLE>I<TAHNER-KPNPPPGLLTWLMSIDVKYQIWK | 4780 |
RYR2 | VKRKVMDKYGEFYGRDRISELLGMDKAALD>F<SDAREKKKPKKDSSLSAVLNSIDVKYQMWK | 4709 |
RYR3 | VKRKVINKYGDLYGAERIAELLGLDKNALD>F<SPVEET-KA-EAASLVSWLSSIDMKYHIWK | 4612 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4751S | c.14252T>G | Putative Benign | SIFT: Polyphen: |