No paralogue variants have been mapped to residue 1614 for RYR2.
RYR2 | PRLHVQFLSHVLWSRMPNQFLKVDVSRISE>R<QGWLVQCLDPLQFMSLHIPEENRSVDILEL | 1644 |
RYR1 | PRLEMQMLMPVSWSRMPNHFLQVETRRAGE>R<LGWAVQCQEPLTMMALHIPEENRCMDILEL | 1652 |
RYR3 | PRLDVQTIQPVLWSRMPNSFLKVETERVSE>R<HGWVVQCLEPLQMMALHIPEENRCVDILEL | 1548 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1614S | c.4840C>A | Putative Benign | rs373079767 | SIFT: tolerated Polyphen: possibly damaging | |
p.R1614C | c.4840C>T | Putative Benign | SIFT: tolerated Polyphen: probably damaging | ||
p.R1614H | c.4841G>A | Putative Benign | SIFT: Polyphen: |