Paralogue Annotation for RYR1 residue 4651
Residue details
Gene: RYR1Reference Sequences: Ensembl variant:
ENST00000359596 /
ENSP00000352608Amino Acid Position: 4651
Reference Amino Acid: H - Histidine
Protein Domain: Paralogue Variants mapped to RYR1 residue 4651
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR2 | H4579Y | Catecholaminergic polymorphic ventricular tachycar | High | 7 |
22222782 |
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 RYR1.
| RYR1 | EGDEDENMVYYFLEESTGYMEPALRCLSLL>H<TLVAFLCIIGYNCLKVPLVIFKREKELARK | 4681 |
| RYR2 | -SSHRIIAVHYVLEESSGYMEPTLRILAIL>H<TVISFFCIIGYYCLKVPLVIFKREKEVARK | 4609 |
| RYR3 | -EEEEEAMVFFVLQESTGYMAPTLRALAII>H<TIISLVCVVGYYCLKVPLVVFKREKEIARK | 4514 |
| cons | > < | |
Known Variants in RYR1
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.H4651P | c.13952A>C |
Other Myopathy | | rs118192139 | SIFT:
Polyphen: |
| Reports | Other Myopathy | |
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord. 2003 13(2):151-7.
12565913 |
| Unknown | |
Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180.
22009146 |