Paralogue Annotation for RYR1 residue 4195

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4195
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4195

No paralogue variants have been mapped to residue 4195 for RYR1.

RYR1	LAESILEYFRPYLGRIEIMGASRRIERIYF>E<ISETNRAQWEMPQVKESKRQFIFDVVNEGG	4225
RYR2	LAESVLNYFQPFLGRIEIMGSAKRIERVYF>E<ISESSRTQWEKPQVKESKRQFIFDVVNEGG	4181
RYR3	PAESVLNYFEPYLGRIEIMGGAKKIERVYF>E<ISESSRTQWEKPQVKESKRQFIFDVVNEGG	4077
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4195K	c.12583G>A	Putative Benign			SIFT: Polyphen:
p.E4195D	c.12585G>T	Unknown			SIFT: Polyphen: benign