No paralogue variants have been mapped to residue 1808 for RYR1.
RYR1 | SPPCFVAALPAAGAAEAPARLSPAIPLEAL>R<DKALRMLGEAVRDGGQHARDPVGGSVEFQF | 1838 |
RYR2 | SSPSFVSI------SNECYQYSPEFPLDIL>K<SKTIQMLTEAVKEGSLHARDPVGGTTEFLF | 1818 |
RYR3 | STPCFVVT------GEDHQKQSPEIPLESL>R<TKALSMLTEAVQCSGAHIRDPVGGSVEFQF | 1722 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1808W | c.5422C>T | Putative Benign | SIFT: Polyphen: | ||
p.R1808Q | c.5423G>A | Putative Benign | SIFT: Polyphen: |