No paralogue variants have been mapped to residue 1438 for RYR2.
RYR2 | VLADDRDDYDFLMQT-STYYYSVRIFPGQE>P<ANVWVGWITSDFHQYDTGFDLDRVRTVTVT | 1468 |
RYR1 | VVPADNRDDPEIILNTTTYYYSVRVFAGQE>P<SCVWAGWVTPDYHQHDMSFDLSKVRVVTVT | 1474 |
RYR3 | AFQKRKQMQEILSHTTTQCYYAIRIFAGQD>P<SCVWVGWVTPDYHLYSEKFDLNKNCTVTVT | 1370 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1438H | c.4313C>A | Putative Benign | SIFT: Polyphen: |