No paralogue variants have been mapped to residue 1256 for RYR2.
RYR2 | YFTICGLQEGYEPFAVNTNRDITMWLSKRL>P<QFLQVPSNHEHIEVTRIDGTIDSSPCLKVT | 1286 |
RYR1 | FFAICGLQEGFEPFAINMQRPVTTWFSKGL>P<QFEPVPLEHPHYEVSRVDGTVDTPPCLRLT | 1272 |
RYR3 | FYTMCGLQEGFEPFAVNMNRDVAMWFSKRL>P<TFVNVPKDHPHIEVMRIDGTMDSPPCLKVT | 1272 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1256T | c.3766C>A | Inherited Arrhythmia | 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 | ||
p.P1256L | c.3767C>T | Putative Benign | SIFT: Polyphen: |