Paralogue Annotation for RYR2 residue 3544

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3544
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3544

No paralogue variants have been mapped to residue 3544 for RYR2.

RYR2	LQGKLE-DPAIRWQMALYKDLPNRTDDTSD>P<EKTVERVLDIANVLFHLEQKSKRVGRRHYC	3574
RYR1	LQGKVEGSPSLRWQMALYRGVPGREEDADD>P<EKIVRRV-------------QEVSAVLYYL	3606
RYR3	LQEKSD-DPAVKWQLNLYKDVLK-SEEPFN>P<EKTVERV-------------QRISAAVFHL	3461
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3544R	c.10631C>G	Putative Benign			SIFT: Polyphen:
p.P3544L	c.10631C>T	Putative Benign			SIFT: Polyphen: