Paralogue Annotation for RYR1 residue 651

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 651
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 651

No paralogue variants have been mapped to residue 651 for RYR1.

RYR1	TENLLPGRELLLQTNLINYVTSIRPNIFVG>R<AEGTTQYSKWYFEVMVDEVTPFLTAQATHL	681
RYR2	CDNLLPGRDLLLQTRLVNHVSSMRPNIFLG>V<SEGSAQYKKWYYELMVDHTEPFVTAEATHL	693
RYR3	CDNLLPRRNLLLQTRLINDVTSIRPNIFLG>V<AEGSAQYKKWYFELIIDQVDPFLTAEPTHL	680
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R651Q	c.1952G>A	Putative Benign			SIFT: tolerated Polyphen: possibly damaging