No paralogue variants have been mapped to residue 1760 for RYR2.
RYR2 | ITLFPD------ENKKHGLPGIGLSTSLRP>R<MQFSSPSFVSI------SNECYQYSPEFPL | 1784 |
RYR1 | ITLFPPGRSTENGHPRHGLPGVGVTTSLRP>P<HHFSPPCFVAALPAAGAAEAPARLSPAIPL | 1804 |
RYR3 | IRLFPD------ESKRHGLPGVGLRTCLKP>G<FRFSTPCFVVT------GEDHQKQSPEIPL | 1688 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1760W | c.5278C>T | Inherited Arrhythmia | SIFT: Polyphen: | ||
Reports | Inherited Arrhythmia | LQTS | Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS One. 2015 10(7):e0130329. doi: 10.1371/journal.pone.0130329. 26132555 | ||
p.R1760G | c.5278C>G | Putative Benign | SIFT: Polyphen: | ||
p.R1760Q | c.5279G>A | Putative Benign | SIFT: Polyphen: |