Paralogue Annotation for RYR1 residue 4658

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4658
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4658

No paralogue variants have been mapped to residue 4658 for RYR1.

RYR1	MVYYFLEESTGYMEPALRCLSLLHTLVAFL>C<IIGYNCLKVPLVIFKREKELARKLEFDGLY	4688
RYR2	AVHYVLEESSGYMEPTLRILAILHTVISFF>C<IIGYYCLKVPLVIFKREKEVARKLEFDGLY	4616
RYR3	MVFFVLQESTGYMAPTLRALAIIHTIISLV>C<VVGYYCLKVPLVVFKREKEIARKLEFDGLY	4521
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C4658R	c.13972T>C	Putative Benign			SIFT: Polyphen: