No paralogue variants have been mapped to residue 440 for RYR2.
RYR2 | HEESRTARVIRSTVFLFNRFIRGLDALSKK>A<KA----STVDLPIESVSLSLQDLIGYFHPP | 466 |
RYR1 | QEESQAARMIHSTNGLYNQFIKSLDSFSGK>P<RGSGPPAGTALPIEGVILSLQDLIIYFEPP | 454 |
RYR3 | REESQAARIIRNTTALFSQFVSGN-----N>R<TA----APITLPIEEVLQTLQDLIAYFQPP | 453 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A440T | c.1318G>A | Putative Benign | rs371878264 | SIFT: tolerated Polyphen: benign | |
p.A440V | c.1319C>T | Putative Benign | SIFT: Polyphen: | ||
p.A440E | c.1319C>A | Putative Benign | SIFT: Polyphen: |