Paralogue Annotation for RYR2 residue 2331
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 2331
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region
Paralogue Variants mapped to RYR2 residue 2331
Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | RYR1 | F2364V | Malignant hyperthermia | High | 9 |
16917943 |
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 | FLRFAVFCNGESVEENANVVVRLLIRRPEC>F<GPALRGEGGNGLLAAMEEAIKIAEDPSRDG | 2361 |
RYR1 | FLRFAVFVNGESVEENANVVVRLLIRKPEC>F<GPALRGEGGSGLLAAIEEAIRISEDPARDG | 2394 |
RYR3 | FLRFAVFVNSESVEENASVVVKLLIRRPEC>F<GPALRGEGGNGLLAAMQGAIKISENPALDL | 2258 |
cons | > < | |
Known Variants in RYR2
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.F2331S | c.6992T>C |
Inherited Arrhythmia | CPVT | | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | CPVT |
Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy. J Mol Diagn. 2006 8(1):62-7.
16436635 |
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 |