POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations L304R and G888D.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

448

G888D1

L304R3

Alpers, psychomotor retardation, epileptic encephalopathy, progressive cerebral atrophy and altered liver enzymes, mtDNA depletion. Patient 9. Age of onset information obtained from corresponding author via email.

-	encephalopathy

-	retardation

-	Alpers syndrome

-	developmental delay

epilepsy

infantile

n/a

1.33

Navarro-Sastre et al, 2012;

[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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