Paralogue Annotation for RYR2 residue 1565
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 1565
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region
Paralogue Variants mapped to RYR2 residue 1565
Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | RYR1 | P1573L | Nemaline myopathy | High | 9 |
22407809 |
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 | PSTKLFPAVFAQATSPNVFQFELGRIKNVM>P<LSAGLFKSEHKNPVPQCPPRLHVQFLSHVL | 1595 |
RYR1 | PNTKLFPAVFVLPTHQNVIQFELGKQKNIM>P<LSAAMFQSERKNPAPQCPPRLEMQMLMPVS | 1603 |
RYR3 | PNTKVFPAVFLQPTSTSLFQFELGKLKNAM>P<LSAAIFRSEEKNPVPQCPPRLDVQTIQPVL | 1499 |
cons | > < | |
Known Variants in RYR2
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.P1565A | c.4693C>G |
Cardiomyopathy | ARVD/C | | SIFT: Polyphen: |
Reports | Cardiomyopathy | ARVD/C |
Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol. 2013 62(19):1761-9. doi: 10.1016/j.jacc.2012.11.087.
23810894 |