POLG Pathogenicity Prediction Server

2 patient data entries collated from reference Visser et al, 2011.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

333

A467T2

A467T2

Seizures, magnesium infusion stopped the seizures

-	no known symptoms

juvenile

n/a

334

A467T2

A467T2

Migraine, seizures, dysphasia, magnesium infusion stopped the seizures

-	headache/ migraine

juvenile

n/a

^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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Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

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