Paralogue Annotation for RYR2 residue 76

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 76
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 76

No paralogue variants have been mapped to residue 76 for RYR2.

RYR2	LCFLESTSNSKNVPPDLSICTFVLEQSLSV>R<ALQEMLANTVEKSEGQVDVEKWKFMMKTAQ	106
RYR1	LCFLEPTSNAQNVPPDLAICCFVLEQSLSV>R<ALQEMLANTVEAG--V---E-------SSQ	93
RYR3	LCFLEPTSEAKYIPPDLCVCNFVLEQSLSV>R<ALQEMLANTGENG-GE---G-------AAQ	96
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R76W	c.226C>T	Putative Benign			SIFT: deleterious Polyphen: probably damaging