Paralogue Annotation for RYR2 residue 1073

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1073
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1073

No paralogue variants have been mapped to residue 1073 for RYR2.

RYR2	KKSNKDSLREAVRTLLGYGYNLEAPDQDHA>A<RAEVCSGTGERFRIFRAEKTYAVKAGRWYF	1103
RYR1	KRSNRDSLCQAVRTLLGYGYNIEPPDQEP->S<QVEN-QSRCDRVRIFRAEKSYTVQSGRWYF	1089
RYR3	KKSNRDSLREAVRTFVGYGYNIEPSDQEL->A<DSAVEKVSIDKIRFFRVERSYAVRSGKWYF	1089
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1073D	c.3218C>A	Putative Benign			SIFT: Polyphen: