Paralogue Annotation for RYR1 residue 4187

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4187
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4187

No paralogue variants have been mapped to residue 4187 for RYR1.

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

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4187S	c.12559C>A	Putative Benign			SIFT: Polyphen: