Paralogue Annotation for RYR2 residue 4290

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4290
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4290

No paralogue variants have been mapped to residue 4290 for RYR2.

RYR2	SLKSLKKQMKKVKKMTVKDMVTAFFSSYWS>I<FMTLLHFVASVFRGFFRIICSLLLGGSLVE	4320
RYR1	SYRSLRRRVRRLRRLTAREAATAVAALLWA>A<VTRAGAAGAGAAAGALGLLWGSLFGGGLVE	4369
RYR3	TLKNLRKQYRNVKKMTAKELVKVLFSFFWM>L<FVGLFQLLFTILGGIFQILWSTVFGGGLVE	4221
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4290F	c.12868A>T	Putative Benign			SIFT: Polyphen: