Paralogue Annotation for RYR2 residue 2307
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 2307
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region
Paralogue Variants mapped to RYR2 residue 2307
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR1 | F2340L | Central core disease | High | 9 |
25960145 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to
check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing.
It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR2.
| RYR2 | CQMLVSKGYPDIGWNPVEGERYLDFLRFAV>F<CNGESVEENANVVVRLLIRRPECFGPALRG | 2337 |
| RYR1 | CPMLVAKGYPDIGWNPCGGERYLDFLRFAV>F<VNGESVEENANVVVRLLIRKPECFGPALRG | 2370 |
| RYR3 | CPMLLAKGYPDVGWNPIEGERYLSFLRFAV>F<VNSESVEENASVVVKLLIRRPECFGPALRG | 2234 |
| cons | > < | |
Known Variants in RYR2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.F2307L | c.6919T>C |
Inherited Arrhythmia | CPVT | | SIFT: deleterious
Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | CPVT |
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8.
18752142 |
| 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 |