Paralogue Annotation for RYR1 residue 3590

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3590
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3590

No paralogue variants have been mapped to residue 3590 for RYR1.

RYR1	QGKVEGSPSLRWQMALYRGVPGREEDADDP>E<KIVRRV-------------QEVSAVLYYLD	3607
RYR2	QGKLE-DPAIRWQMALYKDLPNRTDDTSDP>E<KTVERVLDIANVLFHLEQKSKRVGRRHYCL	3575
RYR3	QEKSD-DPAVKWQLNLYKDVLK-SEEPFNP>E<KTVERV-------------QRISAAVFHLE	3462
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3590K	c.10768G>A	Putative Benign			SIFT: Polyphen: