Paralogue Annotation for RYR1 residue 643

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 643
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 643

No paralogue variants have been mapped to residue 643 for RYR1.

RYR1	VRSNQDLITENLLPGRELLLQTNLINYVTS>I<RPNIFVGRAEGTTQYSKWYFEVMVDEVTPF	673
RYR2	VRSNQHLICDNLLPGRDLLLQTRLVNHVSS>M<RPNIFLGVSEGSAQYKKWYYELMVDHTEPF	685
RYR3	VRANQNLICDNLLPRRNLLLQTRLINDVTS>I<RPNIFLGVAEGSAQYKKWYFELIIDQVDPF	672
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I643F	c.1927A>T	Putative Benign			SIFT: Polyphen: