Paralogue Annotation for RYR1 residue 2365

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2365
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2365

No paralogue variants have been mapped to residue 2365 for RYR1.

RYR1	LRFAVFVNGESVEENANVVVRLLIRKPECF>G<PALRGEGGSGLLAAIEEAIRISEDPARDGP	2395
RYR2	LRFAVFCNGESVEENANVVVRLLIRRPECF>G<PALRGEGGNGLLAAMEEAIKIAEDPSRDGP	2362
RYR3	LRFAVFVNSESVEENASVVVKLLIRRPECF>G<PALRGEGGNGLLAAMQGAIKISENPALDLP	2259
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2365R	c.7093G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol. 2015 262(7):1728-40. doi: 10.1007/s00415-015-7757-9. 25957634