Paralogue Annotation for RYR2 residue 4281

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4281
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4281

No paralogue variants have been mapped to residue 4281 for RYR2.

RYR2	NILTLMRMLSLKSLKKQMKKVKKMTVKDMV>T<AFFSSYWSIFMTLLHFVASVFRGFFRIICS	4311
RYR1	AAGRALRGLSYRSLRRRVRRLRRLTAREAA>T<AVAALLWAAVTRAGAAGAGAAAGALGLLWG	4360
RYR3	NVTDFLKRATLKNLRKQYRNVKKMTAKELV>K<VLFSFFWMLFVGLFQLLFTILGGIFQILWS	4212
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4281M	c.12842C>T	Putative Benign		rs201829896	SIFT: tolerated Polyphen: benign
p.T4281S	c.12841A>T	Putative Benign			SIFT: Polyphen: