Paralogue Annotation for RYR2 residue 4143

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4143
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4143

No paralogue variants have been mapped to residue 4143 for RYR2.

RYR2	TRLQTFLELAESVLNYFQPFLGRIEIMGSA>K<RIERVYFEISESSRTQWEKPQVKESKRQFI	4173
RYR1	PRLHNFLELAESILEYFRPYLGRIEIMGAS>R<RIERIYFEISETNRAQWEMPQVKESKRQFI	4217
RYR3	SRLKCLLDPAESVLNYFEPYLGRIEIMGGA>K<KIERVYFEISESSRTQWEKPQVKESKRQFI	4069
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4143Q	c.12427A>C	Putative Benign			SIFT: Polyphen:
p.K4143E	c.12427A>G	Putative Benign			SIFT: Polyphen: