Paralogue Annotation for RYR1 residue 628

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 628
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 628

No paralogue variants have been mapped to residue 628 for RYR1.

RYR1	VLDVLCSLCVCNGVAVRSNQDLITENLLPG>R<ELLLQTNLINYVTSIRPNIFVGRAEGTTQY	658
RYR2	VLDVLCSLCVCHGVAVRSNQHLICDNLLPG>R<DLLLQTRLVNHVSSMRPNIFLGVSEGSAQY	670
RYR3	VLDILCSLCLCNGVAVRANQNLICDNLLPR>R<NLLLQTRLINDVTSIRPNIFLGVAEGSAQY	657
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R628C	c.1882C>T	Putative Benign			SIFT: Polyphen:
p.R628H	c.1883G>A	Putative Benign			SIFT: Polyphen: