Paralogue Annotation for RYR2 residue 4221

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4221
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4221

No paralogue variants have been mapped to residue 4221 for RYR2.

RYR2	NFCEDTIFEMQLAAQISESDLNERSANKEE>S<EK-----ERPEEQGPRMAFFSILTVRSALF	4246
RYR1	SFCEDTIFEMQIAAQISEPEGEPETDEDEG>A<GAAEAGAEGAEEGAAGLEGTAATAAAGATA	4295
RYR3	NFCEDTIFEMQLASQISESDSADRPEEEEE>D<EDSSYVLEIAGEEEEDGSLEPASAFAMACA	4147
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4221G	c.12661A>G	Putative Benign			SIFT: Polyphen:
p.S4221R	c.12663C>G	Putative Benign			SIFT: Polyphen: