POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations W748S and R852H.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

165

R852H1

W748S5

Alpers. 46% mtDNA copy number in blood.

-	Alpers syndrome

-	encephalopathy

-	developmental delay

epilepsy

childhood

n/a

Tang et al, 2011;

[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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