POLG Pathogenicity Prediction Server

1 patient data entry collated from reference Boes et al, 2009.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

423

A467T2

A467T2

Presented with status epilepticus, cerebellar ataxia and myoclonus, epilepsia partialis continua, Transient liver dysfunction with sodium valproate treatment at age 15, refractory focal motor status at age 17,

-	status epilepticus

-	myoclonic seizures

-	epilepsia partialis

-	cerebellar ataxia

-	movement disorder (ataxia)

-	liver dysfunction

childhood

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:

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