Paralogue Annotation for RYR2 residue 1133

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1133
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1133

No paralogue variants have been mapped to residue 1133 for RYR2.

RYR2	FEFETVTAGDMRVGWSRPGCQPDQELGSDE>R<AFAFDGFKAQRWHQGNEHYGRSWQAGDVVG	1163
RYR1	FEFEAVTTGEMRVGWARPELRPDVELGADE>L<AYVFNGHRGQRWHLGSEPFGRPWQPGDVVG	1149
RYR3	FEFEVVTGGDMRVGWARPGCRPDVELGADD>Q<AFVFEGNRGQRWHQGSGYFGRTWQPGDVVG	1149
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1133H	c.3398G>A	Putative Benign		rs374397612	SIFT: tolerated Polyphen: benign
p.R1133C	c.3397C>T	Putative Benign			SIFT: Polyphen: