No paralogue variants have been mapped to residue 435 for RYR2.
RYR2 | LSRSQHEESRTARVIRSTVFLFNRFIRGLD>A<LSKKAKA----STVDLPIESVSLSLQDLIG | 461 |
RYR1 | LTRCQQEESQAARMIHSTNGLYNQFIKSLD>S<FSGKPRGSGPPAGTALPIEGVILSLQDLII | 449 |
RYR3 | LQRCQREESQAARIIRNTTALFSQFVSGN->-<---NRTA----APITLPIEEVLQTLQDLIA | 448 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A435V | c.1304C>T | Putative Benign | SIFT: Polyphen: |