Paralogue Annotation for RYR1 residue 2375
Residue details
Gene: RYR1Reference Sequences: Ensembl variant:
ENST00000359596 /
ENSP00000352608Amino Acid Position: 2375
Reference Amino Acid: G - Glycine
Protein Domain: Paralogue Variants mapped to RYR1 residue 2375
Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | RYR2 | G2342R | Catecholaminergic polymorphic ventricular tachycar | High | 9 |
26114861 |
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 | SVEENANVVVRLLIRKPECFGPALRGEGGS>G<LLAAIEEAIRISEDPARDGPGIRRDRRREH | 2405 |
RYR2 | SVEENANVVVRLLIRRPECFGPALRGEGGN>G<LLAAMEEAIKIAEDPSRDGPSPNS-GSSKT | 2371 |
RYR3 | SVEENASVVVKLLIRRPECFGPALRGEGGN>G<LLAAMQGAIKISENPALDLPSQGY-KREVS | 2268 |
cons | > < | |
Known Variants in RYR1
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.G2375A | c.7124G>C |
Other Myopathy | | rs193922807 | SIFT: Polyphen: |
Reports | Other Myopathy | |
[Current aspects of the diagnosis of malignant hyperthermia]. Anaesthesist. 2002 51(11):904-13.
12434264 |
Other Myopathy | |
Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model. Neuromuscul Disord. 2004 14(7):429-37.
15210166 |