No paralogue variants have been mapped to residue 1795 for RYR1.
RYR1 | VGVTTSLRPPHHFSPPCFVAALPAAGAAEA>P<ARLSPAIPLEALRDKALRMLGEAVRDGGQH | 1825 |
RYR2 | IGLSTSLRPRMQFSSPSFVSI------SNE>C<YQYSPEFPLDILKSKTIQMLTEAVKEGSLH | 1805 |
RYR3 | VGLRTCLKPGFRFSTPCFVVT------GED>H<QKQSPEIPLESLRTKALSMLTEAVQCSGAH | 1709 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1795L | c.5384C>T | Putative Benign | rs141379562 | SIFT: Polyphen: benign |