Paralogue Annotation for RYR2 residue 524
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 524
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region
Paralogue Variants mapped to RYR2 residue 524
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR1 | E512K | Central core disease | High | 9 |
16621918 |
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 | MINLVLECIDRLHVYSSAAHFADVAGREAG>E<SWKSILNSLYELLAALIRGNRKNCAQFSGS | 554 |
| RYR1 | MLSMVLNCIDRLNVYTTAAHFAEFAGEEAA>E<SWKEIVNLLYELLASLIRGNRSNCALFSTN | 542 |
| RYR3 | MLALVLNCIDRLNVYNSVAHFAGIAREESG>M<AWKEILNLLYKLLAALIRGNRNNCAQFSNN | 541 |
| cons | > < | |
Known Variants in RYR2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.E524D | c.1572G>C |
Putative Benign | | | SIFT:
Polyphen: |