Paralogue Annotation for RYR1 residue 415

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 415
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 415

No paralogue variants have been mapped to residue 415 for RYR1.

RYR1	DALSLTRCQQEESQAARMIHSTNGLYNQFI>K<SLDSFSGKPRGSGPPAGTALPIEGVILSLQ	445
RYR2	DGISLSRSQHEESRTARVIRSTVFLFNRFI>R<GLDALSKKAKA----STVDLPIESVSLSLQ	457
RYR3	DGLTLQRCQREESQAARIIRNTTALFSQFV>S<GN-----NRTA----APITLPIEEVLQTLQ	444
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K415R	c.1244A>G	Putative Benign		rs202104274	SIFT: Polyphen: benign
p.K415N	c.1245G>C	Putative Benign			SIFT: Polyphen: