Paralogue Annotation for RYR1 residue 3577

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3577
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3577

No paralogue variants have been mapped to residue 3577 for RYR1.

RYR1	EEVREFLHNNLHLQGKVEGSPSLRWQMALY>R<GVPGREEDADDPEKIVRRV-----------	3596
RYR2	DEVRDIIRSNIHLQGKLE-DPAIRWQMALY>K<DLPNRTDDTSDPEKTVERVLDIANVLFHLE	3562
RYR3	EEVREHLRNNLHLQEKSD-DPAVKWQLNLY>K<DVLK-SEEPFNPEKTVERV-----------	3451
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3577Q	c.10730G>A	Putative Benign		rs372914229	SIFT: tolerated Polyphen: benign
p.R3577W	c.10729C>T	Putative Benign			SIFT: tolerated Polyphen: benign