No paralogue variants have been mapped to residue 4556 for RYR2.
| RYR2 | -LPTRSSSENAK-VTSLDS-----SSHRII>A<VHYVLEESSGYMEPTLRILAILHTVISFFC | 4586 |
| RYR1 | GDVSGAGSGGSSGW-GLGAGEEAEGDEDEN>M<VYYFLEESTGYMEPALRCLSLLHTLVAFLC | 4658 |
| RYR3 | -DVANLWN-------SFND-----EEEEEA>M<VFFVLQESTGYMAPTLRALAIIHTIISLVC | 4491 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A4556T | c.13666G>A | Inherited Arrhythmia | CPVT | rs189345192 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | CPVT | Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm. 2005 2(10):1099-105. 16188589 | ||
| Inherited Arrhythmia | CPVT | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | |||
| Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Inherited Arrhythmia | CPVT | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||
| p.Ala4556Pro | c.13666G>C | Unknown | SIFT: Polyphen: | ||