Paralogue Annotation for RYR2 residue 1080

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1080
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1080

No paralogue variants have been mapped to residue 1080 for RYR2.

RYR2	LREAVRTLLGYGYNLEAPDQDHAARAEVCS>G<TGERFRIFRAEKTYAVKAGRWYFEFETVTA	1110
RYR1	LCQAVRTLLGYGYNIEPPDQEP-SQVEN-Q>S<RCDRVRIFRAEKSYTVQSGRWYFEFEAVTT	1096
RYR3	LREAVRTFVGYGYNIEPSDQEL-ADSAVEK>V<SIDKIRFFRVERSYAVRSGKWYFEFEVVTG	1096
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1080S	c.3238G>A	Putative Benign			SIFT: Polyphen: