No paralogue variants have been mapped to residue 4510 for RYR1.
RYR1 | VDGVEEELPPEPEPEPEPELEPEKADAENG>E<KEEVPEPTPEPPKKQ---------APPSPP | 4531 |
RYR2 | --KA---KEEEKEEKEETKSEPEKAEGEDG>E<KEEKAKEDKGKQKLR--------QLHTHRY | 4470 |
RYR3 | --QA---AEMKAANEAEGKVESEKADMEDG>E<KEDKDKEEEQAEYLWTEVTKKKKRRCGQKV | 4381 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4510Q | c.13528G>C | Putative Benign | SIFT: Polyphen: |