Paralogue Annotation for RYR1 residue 3570

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3570
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3570

No paralogue variants have been mapped to residue 3570 for RYR1.

RYR1	YALKDTDEEVREFLHNNLHLQGKVEGSPSL>R<WQMALYRGVPGREEDADDPEKIVRRV----	3596
RYR2	FSLKDTEDEVRDIIRSNIHLQGKLE-DPAI>R<WQMALYKDLPNRTDDTSDPEKTVERVLDIA	3555
RYR3	YSHRDTDEEVREHLRNNLHLQEKSD-DPAV>K<WQLNLYKDVLK-SEEPFNPEKTVERV----	3451
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3570H	c.10709G>A	Putative Benign			SIFT: Polyphen: