Paralogue Annotation for RYR2 residue 475

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 475
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 475

No paralogue variants have been mapped to residue 475 for RYR2.

RYR2	VDLPIESVSLSLQDLIGYFHPPDEHLEHED>K<QNRLRALKNRQNLFQEEGMINLVLECIDRL	505
RYR1	TALPIEGVILSLQDLIIYFEPPSEDLQHEE>K<QSKLRSLRNRQSLFQEEGMLSMVLNCIDRL	493
RYR3	ITLPIEEVLQTLQDLIAYFQPPEEEMRHED>K<QNKLRSLKNRQNLFKEEGMLALVLNCIDRL	492
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K475Q	c.1423A>C	Putative Benign			SIFT: Polyphen:
p.K475R	c.1424A>G	Putative Benign			SIFT: Polyphen: