No paralogue variants have been mapped to residue 2439 for RYR2.
RYR2 | IHAGKGEAIRIRSILRSLIPLGDLVGVISI>A<FQMPTIAKDGNVVEPDMSAGFCPDHKAAMV | 2469 |
RYR1 | IQAGKGEALRIRAILRSLVPLEDLVGIISL>P<LQIPTLGKDGALVQPKMSASFVPDHKASMV | 2503 |
RYR3 | IQTGKGEAIRIRSILRSLVPTEDLVGIISI>P<LKLPSLNKDGSVSEPDMAANFCPDHKAPMV | 2366 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2439T | c.7315G>A | Cardiomyopathy | rs367818536 | SIFT: deleterious Polyphen: benign | |
Reports | Cardiomyopathy | nsCM | Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977 | ||
p.A2439G | c.7316C>G | Putative Benign | rs371753590 | SIFT: deleterious Polyphen: benign |