No paralogue variants have been mapped to residue 4903 for RYR1.
RYR1 | PDMKCDDMMTCYLFHMYVGVRAGGGIGDEI>E<DPAGDEYELYRVVFDITFFFFVIVILLAII | 4933 |
RYR2 | PDMKCDDMLTCYMFHMYVGVRAGGGIGDEI>E<DPAGDEYEIYRIIFDITFFFFVIVILLAII | 4862 |
RYR3 | PDMKCDDMMTCYLFHMYVGVRAGGGIGDEI>E<DPAGDPYEMYRIVFDITFFFFVIVILLAII | 4765 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4903K | c.14707G>A | Putative Benign | rs372418113 | SIFT: deleterious Polyphen: | |
p.E4903D | c.14709G>C | Putative Benign | SIFT: tolerated Polyphen: |