Paralogue Annotation for RYR1 residue 2368

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2368
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2368

No paralogue variants have been mapped to residue 2368 for RYR1.

RYR1	AVFVNGESVEENANVVVRLLIRKPECFGPA>L<RGEGGSGLLAAIEEAIRISEDPARDGPGIR	2398
RYR2	AVFCNGESVEENANVVVRLLIRRPECFGPA>L<RGEGGNGLLAAMEEAIKIAEDPSRDGPSPN	2365
RYR3	AVFVNSESVEENASVVVKLLIRRPECFGPA>L<RGEGGNGLLAAMQGAIKISENPALDLPSQG	2262
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2368V	c.7102C>G	Putative Benign			SIFT: deleterious Polyphen: benign