Paralogue Annotation for RYR2 residue 3547

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3547
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3547

No paralogue variants have been mapped to residue 3547 for RYR2.

RYR2	KLE-DPAIRWQMALYKDLPNRTDDTSDPEK>T<VERVLDIANVLFHLEQKSKRVGRRHYCL-V	3576
RYR1	KVEGSPSLRWQMALYRGVPGREEDADDPEK>I<VRRV-------------QEVSAVLYYLDQT	3609
RYR3	KSD-DPAVKWQLNLYKDVLK-SEEPFNPEK>T<VERV-------------QRISAAVFHLEQV	3464
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3547M	c.10640C>T	Putative Benign			SIFT: tolerated Polyphen: benign
p.T3547R	c.10640C>G	Putative Benign			SIFT: Polyphen: