Paralogue Annotation for RYR1 residue 2330

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2330
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2330

No paralogue variants have been mapped to residue 2330 for RYR1.

RYR1	SYLAGCGLQSCPMLVAKGYPDIGWNPCGGE>R<YLDFLRFAVFVNGESVEENANVVVRLLIRK	2360
RYR2	RYLAGCGLQSCQMLVSKGYPDIGWNPVEGE>R<YLDFLRFAVFCNGESVEENANVVVRLLIRR	2327
RYR3	TYLAGCGLQSCPMLLAKGYPDVGWNPIEGE>R<YLSFLRFAVFVNSESVEENASVVVKLLIRR	2224
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2330C	c.6988C>T	Putative Benign			SIFT: Polyphen:
p.R2330H	c.6989G>A	Putative Benign			SIFT: Polyphen: