POLG Pathogenicity Prediction Server

3 patient data entries collated from reference Uusimaa et al, 2008.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

415

W748S5
E1143G

W748S5
E1143G

Headache, visual symptoms, migraine-like headache, Athetosis, nystagmus, emiparesis, valproic acid induced Liver failure, sepsis, pancreatitis, status epilepticus

-	status epilepticus

-	liver failure

-	headache/ migraine

-	pancreatitis

nystagmus

juvenile

n/a

416

W748S5
E1143G

W748S5
E1143G

Seizures, status epilepticus, visual symptoms, nystagmus, valproic acid induced liver failure

-	status epilepticus

-	liver failure

nystagmus

juvenile

n/a

417

W748S5
E1143G

W748S5
E1143G

Migraine like headaches, visual symptoms, focal generalized seizures, severe liver failure, valproate induced liver failure

-	liver failure

-	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:

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