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.

RYR2	YFTICGLQEGYEPFAVNTNRDITMWLSKRL>P<QFLQVPSNHEHIEVTRIDGTIDSSPCLKVT	1286
RYR1	FFAICGLQEGFEPFAINMQRPVTTWFSKGL>P<QFEPVPLEHPHYEVSRVDGTVDTPPCLRLT	1272
RYR3	FYTMCGLQEGFEPFAVNMNRDVAMWFSKRL>P<TFVNVPKDHPHIEVMRIDGTMDSPPCLKVT	1272
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

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: