No paralogue variants have been mapped to residue 4423 for RYR2.
RYR2 | PNAGLSDLMSN-PVPMPE-V-QEKFQEQ-->K<A---KEEEKEEKEETKSEPEKAEGEDGEKE | 4450 |
RYR1 | GLGDMGDTTPAEPPTPEGSP-ILKRKLGVD>G<VEEELPPEPEPEPEPELEPEKADAENGEKE | 4512 |
RYR3 | GLGDLSEIIGKDEPPTLESTVQKKRKA--->Q<A---AEMKAANEAEGKVESEKADMEDGEKE | 4353 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K4423Q | c.13267A>C | Putative Benign | rs376908332 | SIFT: tolerated Polyphen: benign |