POLG Pathogenicity Prediction Server

1 patient data entry collated from reference Sofou et al, 2012.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

544

G303R3

A467T2

Psychomotor deterioration, hypotonia, spasticity, Stroke-like episodes, Refractory seizures, Epilepsia Partialis Continua, Status Epilepticus, Myoclonus, severe hepatic dysfunction,

-	status epilepticus

-	myoclonic seizures

-	intractable seizure

-	epilepsia partialis

-	spasticity

stroke

hypotonic

-	stroke-like episodes

infantile

n/a

0.916

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.

Search criteria for patient entries:

Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

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