Paralogue Annotation for RYR2 residue 4273

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4273
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4273

No paralogue variants have been mapped to residue 4273 for RYR2.

RYR2	SALFALRYNILTLMRMLSLKSLKKQMKKVK>K<MTVKDMVTAFFSSYWSIFMTLLHFVASVFR	4303
RYR1	GATARVVAAAGRALRGLSYRSLRRRVRRLR>R<LTAREAATAVAALLWAAVTRAGAAGAGAAA	4352
RYR3	MACASVKRNVTDFLKRATLKNLRKQYRNVK>K<MTAKELVKVLFSFFWMLFVGLFQLLFTILG	4204
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4273E	c.12817A>G	Putative Benign			SIFT: Polyphen: