POLG Pathogenicity Prediction Server

1 patient data entry collated from reference Sofou et al, 2013.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

457

R852C1

W748S5
Q497H2
E1143G

Alpers/ Alpers–Huttenlocher.

-	Alpers syndrome

-	encephalopathy

-	developmental delay

epilepsy

infantile

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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