Paralogue Annotation for RYR2 residue 4263

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4263
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4263

No paralogue variants have been mapped to residue 4263 for RYR2.

RYR2	MAFFSILTVRSALFALRYNILTLMRMLSLK>S<LKKQMKKVKKMTVKDMVTAFFSSYWSIFMT	4293
RYR1	LEGTAATAAAGATARVVAAAGRALRGLSYR>S<LRRRVRRLRRLTAREAATAVAALLWAAVTR	4342
RYR3	GSLEPASAFAMACASVKRNVTDFLKRATLK>N<LRKQYRNVKKMTAKELVKVLFSFFWMLFVG	4194
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4263N	c.12788G>A	Putative Benign			SIFT: tolerated Polyphen: benign