POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R807C and A467T.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

R807C3

A467T2

Encephalopathy/dementia, liver failure, cholestasis, lactic acidosis, altered mental status. 47% mtDNA copy number in muscle, 8% mtDNA copy number in liver, ETC low.

-	lactic acidosis

-	liver failure

-	encephalopathy

dementia

-	altered mental status

-	cholestasis

infantile

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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Reference:

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

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