Paralogue Annotation for RYR1 residue 2586

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2586
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2586

No paralogue variants have been mapped to residue 2586 for RYR1.

RYR1	LAVLPLITKCAPLFAGTEHRAIMVDSMLHT>V<YRLSRGRSLTKAQRDVIEDCLMSLCRYIRP	2616
RYR2	TAVLPLLTRCAPLFAGTEHHASLIDSLLHT>V<YRLSKGCSLTKAQRDSIEVCLLSICGQLRP	2582
RYR3	SAVLPLLTRCAPLFAGTEHCTSLIDSTLQT>I<YRLSKGRSLTKAQRDTIEECLLAICNHLRP	2479
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2586G	c.7757T>G	Putative Benign			SIFT: deleterious Polyphen: benign
p.V2586M	c.7756G>A	Putative Benign			SIFT: Polyphen: