Paralogue Annotation for RYR2 residue 1084

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1084
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1084

No paralogue variants have been mapped to residue 1084 for RYR2.

RYR2	VRTLLGYGYNLEAPDQDHAARAEVCSGTGE>R<FRIFRAEKTYAVKAGRWYFEFETVTAGDMR	1114
RYR1	VRTLLGYGYNIEPPDQEP-SQVEN-QSRCD>R<VRIFRAEKSYTVQSGRWYFEFEAVTTGEMR	1100
RYR3	VRTFVGYGYNIEPSDQEL-ADSAVEKVSID>K<IRFFRVERSYAVRSGKWYFEFEVVTGGDMR	1100
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1084K	c.3251G>A	Putative Benign		rs193922624	SIFT: tolerated Polyphen: benign