Paralogue Annotation for RYR1 residue 654

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 654
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 654

No paralogue variants have been mapped to residue 654 for RYR1.

RYR1	LLPGRELLLQTNLINYVTSIRPNIFVGRAE>G<TTQYSKWYFEVMVDEVTPFLTAQATHLRVG	684
RYR2	LLPGRDLLLQTRLVNHVSSMRPNIFLGVSE>G<SAQYKKWYYELMVDHTEPFVTAEATHLRVG	696
RYR3	LLPRRNLLLQTRLINDVTSIRPNIFLGVAE>G<SAQYKKWYFELIIDQVDPFLTAEPTHLRVG	683
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G654D	c.1961G>A	Putative Benign			SIFT: Polyphen: possibly damaging