No paralogue variants have been mapped to residue 2920 for RYR2.
RYR2 | QDILKFLQINGYAVSRGFKDLELDTPSIEK>R<FAYSFLQQLIRYVDEAHQYILEFDGG-SRG | 2949 |
RYR1 | QELLKFLQMNGYAVTRGLKDMELDSSSIEK>R<FAFGFLQQLLRWMDISQEFIAHLEAVVSSG | 2984 |
RYR3 | QDLFKFLQVNGIIVSRGMKDMELDASSMEK>R<FAYKFLKKILKYVDSAQEFIAHLEAIVSSG | 2845 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2920Q | c.8759G>A | Putative Benign | SIFT: Polyphen: | ||
p.Arg2920Leu | c.8759G>T | Unknown | SIFT: Polyphen: |