Paralogue Annotation for RYR2 residue 4447

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4447
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4447

No paralogue variants have been mapped to residue 4447 for RYR2.

RYR2	Q--KA---KEEEKEEKEETKSEPEKAEGED>G<EKEEKAKEDKGKQKLR--------QLHTHR	4469
RYR1	GVDGVEEELPPEPEPEPEPELEPEKADAEN>G<EKEEVPEPTPEPPKKQ---------APPSP	4530
RYR3	---QA---AEMKAANEAEGKVESEKADMED>G<EKEDKDKEEEQAEYLWTEVTKKKKRRCGQK	4380
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4447E	c.13340G>A	Putative Benign			SIFT: Polyphen: