Paralogue Annotation for RYR2 residue 1077

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1077
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1077

No paralogue variants have been mapped to residue 1077 for RYR2.

RYR2	KDSLREAVRTLLGYGYNLEAPDQDHAARAE>V<CSGTGERFRIFRAEKTYAVKAGRWYFEFET	1107
RYR1	RDSLCQAVRTLLGYGYNIEPPDQEP-SQVE>N<-QSRCDRVRIFRAEKSYTVQSGRWYFEFEA	1093
RYR3	RDSLREAVRTFVGYGYNIEPSDQEL-ADSA>V<EKVSIDKIRFFRVERSYAVRSGKWYFEFEV	1093
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1077A	c.3230T>C	Putative Benign		rs202176504	SIFT: tolerated Polyphen: benign