| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR1 | R401S | Malignant hyperthermia | High | 9 | 16163667 |
| RYR1 | R401G | Malignant hyperthermia | High | 9 | 16917943, 23422674 |
| RYR1 | R401C | Malignant hyperthermia | High | 9 | 12066726, 23459219, 23919265, 25735680 |
| RYR1 | R401H | Malignant hyperthermia | High | 9 | 12059893 |
| RYR1 | R401L | Malignant hyperthermia | High | 9 | 17968765 |
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 | IQRKAIMHHEGHMDDGISLSRSQHEESRTA>R<VIRSTVFLFNRFIRGLDALSKKAKA----S | 443 |
| RYR1 | LKKKAMLHQEGHMDDALSLTRCQQEESQAA>R<MIHSTNGLYNQFIKSLDSFSGKPRGSGPPA | 431 |
| RYR3 | LKRKVILHQEGHMDDGLTLQRCQREESQAA>R<IIRNTTALFSQFVSGN-----NRTA----A | 430 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R417G | c.1249C>G | Putative Benign | SIFT: deleterious Polyphen: possibly damaging | ||
| p.R417Q | c.1250G>A | Putative Benign | SIFT: Polyphen: | ||
| p.Arg417Leu | c.1250G>T | Unknown | SIFT: Polyphen: |