No paralogue variants have been mapped to residue 4868 for RYR1.
RYR1 | LVMTVGLLAVVVYLYTVVAFNFFRKFYNKS>E<DEDEPDMKCDDMMTCYLFHMYVGVRAGGGI | 4898 |
RYR2 | LVLTVGLLAVVVYLYTVVAFNFFRKFYNKS>E<DGDTPDMKCDDMLTCYMFHMYVGVRAGGGI | 4827 |
RYR3 | LVLTVGLLAVVVYLYTVVAFNFFRKFYNKS>E<DDDEPDMKCDDMMTCYLFHMYVGVRAGGGI | 4730 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4868K | c.14602G>A | Putative Benign | rs187569997 | SIFT: Polyphen: |