Paralogue Annotation for RYR1 residue 4393

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4393
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4393

No paralogue variants have been mapped to residue 4393 for RYR1.

RYR1	FGGGLVEGAKKVTVTELLAGMPDPTSDEVH>G<EQPAGPGGDADGEGASEGAGDAAEGAGDEE	4423
RYR2	LGGSLVEGAKKIKVAELLANMPDPTQDEVR>G<DGEEGERKP-LEAALPSEDLTDLKELTEES	4373
RYR3	FGGGLVEGAKNIRVTKILGDMPDPTQFGIH>D<DTMEAERAEVMEPGITTELVHFIKGEKGDT	4275
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4393S	c.13177G>A	Putative Benign			SIFT: Polyphen: