Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
RYR2 | A2387T | Ventricular tachycardia, polymorphic | High | 9 | 16188589, 24025405, 24136861 |
RYR2 | A2387V | Catecholaminergic polymorphic ventricular tachycar | High | 9 | 23595086 |
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 | ARDGPGIRRDRRREHFGEEPPEENRVHLGH>A<IMSFYAALIDLLGRCAPEMHLIQAGKGEAL | 2451 |
RYR2 | SRDGPSPNS-GSSKTLDTEEEEDDTIHMGN>A<IMTFYSALIDLLGRCAPEMHLIHAGKGEAI | 2417 |
RYR3 | ALDLPSQGY-KREVSTGDDEEEEEIVHMGN>A<IMSFYSALIDLLGRCAPEMHLIQTGKGEAI | 2314 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2421P | c.7261G>C | Other Myopathy | rs193922808 | SIFT: Polyphen: | |
Reports | Other Myopathy | Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 29(5):670-8. 18253926 | |||
p.A2421S | c.7261G>T | Putative Benign | rs193922808 | SIFT: Polyphen: benign | |
p.A2421T | c.7261G>A | Putative Benign | SIFT: Polyphen: |