Paralogue Annotation for RYR2 residue 4600

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4600
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4600

No paralogue variants have been mapped to residue 4600 for RYR2.

RYR2	PTLRILAILHTVISFFCIIGYYCLKVPLVI>F<KREKEVARKLEFDGLYITEQPSEDDIKGQW	4630
RYR1	PALRCLSLLHTLVAFLCIIGYNCLKVPLVI>F<KREKELARKLEFDGLYITEQPEDDDVKGQW	4702
RYR3	PTLRALAIIHTIISLVCVVGYYCLKVPLVV>F<KREKEIARKLEFDGLYITEQPSEDDIKGQW	4535
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4600L	c.13798T>C	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