Paralogue Annotation for RYR1 residue 4119

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4119
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4119

No paralogue variants have been mapped to residue 4119 for RYR1.

RYR1	KKDFQKAMDSQKQFSGPEIQFLLSCSEADE>N<EMINCEEFANRFQEPARDIGFNVAVLLTNL	4149
RYR2	KRDFHKAMESHKHYTQSETEFLLSCAETDE>N<ETLDYEEFVKRFHEPAKDIGFNVAVLLTNL	4105
RYR3	KKEFQKAMEGQKQYTQSEIDFLLSCAEADE>N<DMFNYVDFVDRFHEPAKDIGFNVAVLLTNL	4001
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N4119Y	c.12355A>T	Other Myopathy		rs193922848	SIFT: Polyphen:
Reports		Other Myopathy		Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005 102(3):515-21. 15731587
p.N4119I	c.12356A>T	Putative Benign		rs369637169	SIFT: deleterious Polyphen: benign