POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations W748S and D930N.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

164

D930N1

W748S5

Onset of Alpers at 3 months, death at 19 months. Bilateral lesions of thalami.

-	Alpers syndrome

-	bilateral lesions of thalami

-	encephalopathy

-	developmental delay

epilepsy

infantile

0.3

n/a

1.5

Spinazzola et al, 2009;

[view data]

^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.

Mutations:

Allele 1:	Allele 2:

Separate multiple mutations with commas. Use "PNF" for non-missense mutations.

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