Paralogue Annotation for RYR1 residue 30

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 30
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 30

No paralogue variants have been mapped to residue 30 for RYR1.

RYR1	GD-AE-GEDEVQFLRTDDEVVLQCSATVLK>E<QLKLCLAAEGFGNRLCFLEPTSNAQNVPPD	60
RYR2	ADGGE-GEDEIQFLRTDDEVVLQCTATIHK>E<QQKLCLAAEGFGNRLCFLESTSNSKNVPPD	61
RYR3	AEGGEGGEDEIQFLRTEDEVVLQCIATIHK>E<QRKFCLAAEGLGNRLCFLEPTSEAKYIPPD	62
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E30V	c.89A>T	Other Cardiac Phenotype		rs145771708	SIFT: Polyphen: probably damaging
Reports		Other Cardiac Phenotype		De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS Genet. 2016 12(4):e1005963. doi: 10.1371/journal.pgen.1005963. 27058611
p.E30K	c.88G>A	Putative Benign			SIFT: Polyphen: