Paralogue Annotation for RYR2 residue 3064

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3064
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3064

No paralogue variants have been mapped to residue 3064 for RYR2.

RYR2	HILGQTLDARTVMKTGLESVKSALRAFLDN>A<AEDLEKTMENLKQGQFTHTRNQPKGVTQII	3094
RYR1	HILARSLDARTVMKSGPEIVKAGLRSFFES>A<SEDIEKMVENLRLGKVSQARTQVKGVGQNL	3129
RYR3	HILAQTLDTRTVMKSGSELVKAGLRAFFEN>A<AEDLEKTSENLKLGKFTHSRTQIKGVSQNI	2990
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3064T	c.9190G>A	Putative Benign		rs375482798	SIFT: tolerated Polyphen: possibly damaging