No paralogue variants have been mapped to residue 2990 for RYR1.
RYR1 | LQQLLRWMDISQEFIAHLEAVVSSGRVEKS>P<HEQEIKFFAKILLPLINQYFTNHCLYFLST | 3020 |
RYR2 | LQQLIRYVDEAHQYILEFDGG-SRGKGEHF>P<YEQEIKFFAKVVLPLIDQYFKNHRLYFLSA | 2985 |
RYR3 | LKKILKYVDSAQEFIAHLEAIVSSGKTEKS>P<RDQEIKFFAKVLLPLVDQYFTSHCLYFLSS | 2881 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2990L | c.8969C>T | Putative Benign | SIFT: Polyphen: |