No paralogue variants have been mapped to residue 1617 for RYR2.
RYR2 | HVQFLSHVLWSRMPNQFLKVDVSRISERQG>W<LVQCLDPLQFMSLHIPEENRSVDILELTEQ | 1647 |
RYR1 | EMQMLMPVSWSRMPNHFLQVETRRAGERLG>W<AVQCQEPLTMMALHIPEENRCMDILELSER | 1655 |
RYR3 | DVQTIQPVLWSRMPNSFLKVETERVSERHG>W<VVQCLEPLQMMALHIPEENRCVDILELCEQ | 1551 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W1617C | c.4851G>T | Putative Benign | rs376104380 | SIFT: deleterious Polyphen: probably damaging |