Paralogue Annotation for RYR2 residue 4228

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4228
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4228

No paralogue variants have been mapped to residue 4228 for RYR2.

RYR2	AAQISESDLNERSANKEESEK-----ERPE>E<QGPRMAFFSILTVRSALFALRYNILTLMRM	4258
RYR1	AAQISEPEGEPETDEDEGAGAAEAGAEGAE>E<GAAGLEGTAATAAAGATARVVAAAGRALRG	4307
RYR3	ASQISESDSADRPEEEEEDEDSSYVLEIAG>E<EEEDGSLEPASAFAMACASVKRNVTDFLKR	4159
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4228D	c.12684G>T	Putative Benign			SIFT: Polyphen: