Paralogue Annotation for RYR2 residue 3751

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3751
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3751

No paralogue variants have been mapped to residue 3751 for RYR2.

RYR2	KQKLLYQQARLHDRGAAEMVLQTISASKGE>T<GPMVAATLKLGIAILNGGNSTVQQKMLDYL	3781
RYR1	KQRLLYQQARLHTRGAAEMVLQMISACKGE>T<GAMVSSTLKLGISILNGGNAEVQQKMLDYL	3819
RYR3	KQKTLYQQARLHERGAAEMVLQMISASKGE>M<SPMVVETLKLGIAILNGGNAGVQQKMLDYL	3671
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3751S	c.11252C>G	Putative Benign			SIFT: Polyphen: