Paralogue Annotation for RYR2 residue 3567

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3567
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3567

No paralogue variants have been mapped to residue 3567 for RYR2.

RYR2	RTDDTSDPEKTVERVLDIANVLFHLEQKSK>R<VGRRHYCL-VEHPQRSKKAVWHKLLSKQRK	3596
RYR1	REEDADDPEKIVRRV-------------QE>V<SAVLYYLDQTEHPYKSKKAVWHKLLSKQRR	3629
RYR3	-SEEPFNPEKTVERV-------------QR>I<SAAVFHLEQVEQPLRSKKAVWHKLLSKQRK	3484
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3567C	c.10699C>T	Putative Benign			SIFT: tolerated Polyphen: benign
p.R3567H	c.10700G>A	Putative Benign			SIFT: tolerated Polyphen: benign
p.R3567L	c.10700G>T	Putative Benign			SIFT: Polyphen: