Paralogue Annotation for RYR1 residue 4428

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4428
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4428

No paralogue variants have been mapped to residue 4428 for RYR1.

RYR1	GPGGDADGEGASEGAGDAAEGAGDEEEAVH>E<AGPGGADGAVAVTDGGPFRPEGAGGLGDMG	4458
RYR2	GERKP-LEAALPSEDLTDLKELTEESDLLS>D<-----IFGLDLKREGGQYKLIPHNPNAGLS	4403
RYR3	AERAEVMEPGITTELVHFIKGEKGDTDIMS>D<-----LFGLHPKKEGS-LKHGPEVGLGDLS	4304
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4428A	c.13283A>C	Putative Benign			SIFT: tolerated Polyphen: