Paralogue Annotation for RYR2 residue 3524

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3524
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3524

No paralogue variants have been mapped to residue 3524 for RYR2.

RYR2	RFSLKDTEDEVRDIIRSNIHLQGKLE-DPA>I<RWQMALYKDLPNRTDDTSDPEKTVERVLDI	3554
RYR1	RYALKDTDEEVREFLHNNLHLQGKVEGSPS>L<RWQMALYRGVPGREEDADDPEKIVRRV---	3596
RYR3	RYSHRDTDEEVREHLRNNLHLQEKSD-DPA>V<KWQLNLYKDVLK-SEEPFNPEKTVERV---	3451
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3524V	c.10570A>G	Putative Benign			SIFT: Polyphen: