Paralogue Annotation for RYR1 residue 608

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 608
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 608

No paralogue variants have been mapped to residue 608 for RYR1.

RYR1	QENHIKSIISLLDKHGRNHKVLDVLCSLCV>C<NGVAVRSNQDLITENLLPGRELLLQTNLIN	638
RYR2	KEGHIKSIISLLDKHGRNHKVLDVLCSLCV>C<HGVAVRSNQHLICDNLLPGRDLLLQTRLVN	650
RYR3	AEGHIKSIISLLDKHGRNHKVLDILCSLCL>C<NGVAVRANQNLICDNLLPRRNLLLQTRLIN	637
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C608S	c.1823G>C	Putative Benign			SIFT: Polyphen: