Paralogue Annotation for RYR1 residue 2588

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2588
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2588

No paralogue variants have been mapped to residue 2588 for RYR1.

RYR1	VLPLITKCAPLFAGTEHRAIMVDSMLHTVY>R<LSRGRSLTKAQRDVIEDCLMSLCRYIRPSM	2618
RYR2	VLPLLTRCAPLFAGTEHHASLIDSLLHTVY>R<LSKGCSLTKAQRDSIEVCLLSICGQLRPSM	2584
RYR3	VLPLLTRCAPLFAGTEHCTSLIDSTLQTIY>R<LSKGRSLTKAQRDTIEECLLAICNHLRPSM	2481
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2588G	c.7762C>G	Putative Benign			SIFT: Polyphen:
p.R2588C	c.7762C>T	Putative Benign			SIFT: Polyphen:
p.R2588H	c.7763G>A	Putative Benign			SIFT: Polyphen: