Paralogue Annotation for RYR2 residue 2487

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2487
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2487

No paralogue variants have been mapped to residue 2487 for RYR2.

RYR2	SAGFCPDHKAAMVLFLDRVYGIEVQDFLLH>L<LEVGFLPDLRAAASLDTAALSATDMALALN	2517
RYR1	SASFVPDHKASMVLFLDRVYGIENQDFLLH>V<LDVGFLPDMRAAASLDTATFSTTEMALALN	2551
RYR3	AANFCPDHKAPMVLFLDRVYGIKDQTFLLH>L<LEVGFLPDLRASASLDTVSLSTTEAALALN	2414
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2487I	c.7459C>A	Putative Benign			SIFT: tolerated Polyphen: possibly damaging
Reports		Putative Benign		The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015