Paralogue Annotation for RYR1 residue 4115

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4115
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4115

No paralogue variants have been mapped to residue 4115 for RYR1.

RYR1	GLISKKDFQKAMDSQKQFSGPEIQFLLSCS>E<ADENEMINCEEFANRFQEPARDIGFNVAVL	4145
RYR2	GVISKRDFHKAMESHKHYTQSETEFLLSCA>E<TDENETLDYEEFVKRFHEPAKDIGFNVAVL	4101
RYR3	GIISKKEFQKAMEGQKQYTQSEIDFLLSCA>E<ADENDMFNYVDFVDRFHEPAKDIGFNVAVL	3997
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4115D	c.12345A>C	Putative Benign		rs148923077	SIFT: Polyphen: benign
p.E4115K	c.12343G>A	Putative Benign			SIFT: Polyphen: