POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations W748S and R869X.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

652

R869X1

W748S5

Alpers syndrome. At the age of 12 months, he became progressively ataxic and recurrent convulsions appeared, developing quickly to severe epileptic encephalopathy. Fulminant liver failure. Severe mitochondrial depletion found in the liver tissue on autopsy.

-	liver failure

-	encephalopathy

-	Alpers syndrome

-	developmental delay

epilepsy

infantile

n/a

2.5

Kaliszewska et al, 2015;

[view data]

^1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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Reference:

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