Paralogue Annotation for RYR1 residue 629

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 629
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 629

No paralogue variants have been mapped to residue 629 for RYR1.

RYR1	LDVLCSLCVCNGVAVRSNQDLITENLLPGR>E<LLLQTNLINYVTSIRPNIFVGRAEGTTQYS	659
RYR2	LDVLCSLCVCHGVAVRSNQHLICDNLLPGR>D<LLLQTRLVNHVSSMRPNIFLGVSEGSAQYK	671
RYR3	LDILCSLCLCNGVAVRANQNLICDNLLPRR>N<LLLQTRLINDVTSIRPNIFLGVAEGSAQYK	658
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E629K	c.1885G>A	Putative Benign			SIFT: Polyphen: