Paralogue Annotation for RYR2 residue 4267

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4267
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4267

No paralogue variants have been mapped to residue 4267 for RYR2.

RYR2	SILTVRSALFALRYNILTLMRMLSLKSLKK>Q<MKKVKKMTVKDMVTAFFSSYWSIFMTLLHF	4297
RYR1	AATAAAGATARVVAAAGRALRGLSYRSLRR>R<VRRLRRLTAREAATAVAALLWAAVTRAGAA	4346
RYR3	PASAFAMACASVKRNVTDFLKRATLKNLRK>Q<YRNVKKMTAKELVKVLFSFFWMLFVGLFQL	4198
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q4267R	c.12800A>G	Putative Benign			SIFT: Polyphen: