Paralogue Annotation for RYR2 residue 4285

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4285
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4285

No paralogue variants have been mapped to residue 4285 for RYR2.

RYR2	LMRMLSLKSLKKQMKKVKKMTVKDMVTAFF>S<SYWSIFMTLLHFVASVFRGFFRIICSLLLG	4315
RYR1	ALRGLSYRSLRRRVRRLRRLTAREAATAVA>A<LLWAAVTRAGAAGAGAAAGALGLLWGSLFG	4364
RYR3	FLKRATLKNLRKQYRNVKKMTAKELVKVLF>S<FFWMLFVGLFQLLFTILGGIFQILWSTVFG	4216
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4285L	c.12854C>T	Putative Benign			SIFT: Polyphen: