Paralogue Annotation for RYR2 residue 1256

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1256
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1256

No paralogue variants have been mapped to residue 1256 for RYR2.



RYR2YFTICGLQEGYEPFAVNTNRDITMWLSKRL>P<QFLQVPSNHEHIEVTRIDGTIDSSPCLKVT1286
RYR1FFAICGLQEGFEPFAINMQRPVTTWFSKGL>P<QFEPVPLEHPHYEVSRVDGTVDTPPCLRLT1272
RYR3FYTMCGLQEGFEPFAVNMNRDVAMWFSKRL>P<TFVNVPKDHPHIEVMRIDGTMDSPPCLKVT1272
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1256Tc.3766C>A Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaCPVT 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.P1256Lc.3767C>T Putative BenignSIFT:
Polyphen: