Paralogue Annotation for RYR2 residue 14
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 14
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region
Paralogue Variants mapped to RYR2 residue 14
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR1 | L13V | Myopathy, congenital with cores | High | 9 |
18253926 |
| RYR1 | L13R | Malignant hyperthermia | High | 9 |
16917943, 23422674, 23558838 |
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 | MADGGE-GEDEIQF>L<RTDDEVVLQCTATIHKEQQKLCLAAEGFGN | 44 |
| RYR1 | MGD-AE-GEDEVQF>L<RTDDEVVLQCSATVLKEQLKLCLAAEGFGN | 43 |
| RYR3 | MAEGGEGGEDEIQF>L<RTEDEVVLQCIATIHKEQRKFCLAAEGLGN | 45 |
| cons | > < | |
Known Variants in RYR2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.Leu14Pro | c.41T>C |
Unknown | | | SIFT:
Polyphen: |