Paralogue Annotation for RYR1 residue 4191

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4191
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4191

No paralogue variants have been mapped to residue 4191 for RYR1.

RYR1	NFLELAESILEYFRPYLGRIEIMGASRRIE>R<IYFEISETNRAQWEMPQVKESKRQFIFDVV	4221
RYR2	TFLELAESVLNYFQPFLGRIEIMGSAKRIE>R<VYFEISESSRTQWEKPQVKESKRQFIFDVV	4177
RYR3	CLLDPAESVLNYFEPYLGRIEIMGGAKKIE>R<VYFEISESSRTQWEKPQVKESKRQFIFDVV	4073
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4191H	c.12572G>A	Putative Benign			SIFT: Polyphen: