No paralogue variants have been mapped to residue 2390 for RYR2.
RYR2 | GPSPNS-GSSKTLDTEEEEDDTIHMGNAIM>T<FYSALIDLLGRCAPEMHLIHAGKGEAIRIR | 2420 |
RYR1 | GPGIRRDRRREHFGEEPPEENRVHLGHAIM>S<FYAALIDLLGRCAPEMHLIQAGKGEALRIR | 2454 |
RYR3 | LPSQGY-KREVSTGDDEEEEEIVHMGNAIM>S<FYSALIDLLGRCAPEMHLIQTGKGEAIRIR | 2317 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2390I | c.7169C>T | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | CPVT | Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861 | ||
Inherited Arrhythmia | CPVT | Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation. Pediatr Int. 2016 58(6):512-515. doi: 10.1111/ped.12910. 27225049 |