Paralogue Annotation for RYR2 residue 4865
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 4865
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region
Paralogue Variants mapped to RYR2 residue 4865
Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | RYR1 | L4936R | Central core disease | High | 9 |
23919265 |
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 | AGDEYEIYRIIFDITFFFFVIVILLAIIQG>L<IIDAFGELRDQQEQVKEDMETKCFICGIGN | 4895 |
RYR1 | AGDEYELYRVVFDITFFFFVIVILLAIIQG>L<IIDAFGELRDQQEQVKEDMETKCFICGIGS | 4966 |
RYR3 | AGDPYEMYRIVFDITFFFFVIVILLAIIQG>L<IIDAFGELRDQQEQVREDMETKCFICGIGN | 4798 |
cons | > < | |
Known Variants in RYR2
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.L4865V | c.14593C>G |
Inherited Arrhythmia | CPVT | | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | CPVT |
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13.
23595086 |