No paralogue variants have been mapped to residue 547 for RYR2.
RYR2 | VAGREAGESWKSILNSLYELLAALIRGNRK>N<CAQFSGSLDWLISRLERLEASSGILEVLHC | 577 |
RYR1 | FAGEEAAESWKEIVNLLYELLASLIRGNRS>N<CALFSTNLDWLVSKLDRLEASSGILEVLYC | 565 |
RYR3 | IAREESGMAWKEILNLLYKLLAALIRGNRN>N<CAQFSNNLDWLISKLDRLESSSGILEVLHC | 564 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N547T | c.1640A>C | Putative Benign | SIFT: Polyphen: | ||
p.N547S | c.1640A>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases. Int J Legal Med. 2015 129(4):793-800. doi: 10.1007/s00414-014-1105-y. 25467552 | |||
p.Asn547Lys | c.1641C>A | Unknown | SIFT: Polyphen: |