Paralogue Annotation for RYR1 residue 2369

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2369
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2369

No paralogue variants have been mapped to residue 2369 for RYR1.

RYR1	VFVNGESVEENANVVVRLLIRKPECFGPAL>R<GEGGSGLLAAIEEAIRISEDPARDGPGIRR	2399
RYR2	VFCNGESVEENANVVVRLLIRRPECFGPAL>R<GEGGNGLLAAMEEAIKIAEDPSRDGPSPNS	2366
RYR3	VFVNSESVEENASVVVKLLIRRPECFGPAL>R<GEGGNGLLAAMQGAIKISENPALDLPSQGY	2263
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2369Q	c.7106G>A	Putative Benign			SIFT: Polyphen: