Paralogue Annotation for RYR2 residue 1082

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1082
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1082

No paralogue variants have been mapped to residue 1082 for RYR2.

RYR2	EAVRTLLGYGYNLEAPDQDHAARAEVCSGT>G<ERFRIFRAEKTYAVKAGRWYFEFETVTAGD	1112
RYR1	QAVRTLLGYGYNIEPPDQEP-SQVEN-QSR>C<DRVRIFRAEKSYTVQSGRWYFEFEAVTTGE	1098
RYR3	EAVRTFVGYGYNIEPSDQEL-ADSAVEKVS>I<DKIRFFRVERSYAVRSGKWYFEFEVVTGGD	1098
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1082R	c.3244G>A	Putative Benign			SIFT: Polyphen: