Paralogue Annotation for RYR1 residue 2600

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2600
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2600

No paralogue variants have been mapped to residue 2600 for RYR1.

RYR1	AGTEHRAIMVDSMLHTVYRLSRGRSLTKAQ>R<DVIEDCLMSLCRYIRPSMLQHLLRRLVFDV	2630
RYR2	AGTEHHASLIDSLLHTVYRLSKGCSLTKAQ>R<DSIEVCLLSICGQLRPSMMQHLLRRLVFDV	2596
RYR3	AGTEHCTSLIDSTLQTIYRLSKGRSLTKAQ>R<DTIEECLLAICNHLRPSMLQQLLRRLVFDV	2493
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2600H	c.7799G>A	Putative Benign		rs201749008	SIFT: Polyphen: benign