Paralogue Annotation for RYR2 residue 4287

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4287
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4287

No paralogue variants have been mapped to residue 4287 for RYR2.

RYR2	RMLSLKSLKKQMKKVKKMTVKDMVTAFFSS>Y<WSIFMTLLHFVASVFRGFFRIICSLLLGGS	4317
RYR1	RGLSYRSLRRRVRRLRRLTAREAATAVAAL>L<WAAVTRAGAAGAGAAAGALGLLWGSLFGGG	4366
RYR3	KRATLKNLRKQYRNVKKMTAKELVKVLFSF>F<WMLFVGLFQLLFTILGGIFQILWSTVFGGG	4218
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y4287H	c.12859T>C	Putative Benign		rs190009333	SIFT: tolerated Polyphen: probably damaging