No paralogue variants have been mapped to residue 2486 for RYR2.
RYR2 | MSAGFCPDHKAAMVLFLDRVYGIEVQDFLL>H<LLEVGFLPDLRAAASLDTAALSATDMALAL | 2516 |
RYR1 | MSASFVPDHKASMVLFLDRVYGIENQDFLL>H<VLDVGFLPDMRAAASLDTATFSTTEMALAL | 2550 |
RYR3 | MAANFCPDHKAPMVLFLDRVYGIKDQTFLL>H<LLEVGFLPDLRASASLDTVSLSTTEAALAL | 2413 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H2486Q | c.7458T>G | Putative Benign | rs377763795 | SIFT: tolerated Polyphen: probably damaging |