POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A467T and L605R.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

113

L605R2

A467T2

Alpers, seizures, myoclonus, liver failure, elevated serum lactate, COX deficient fibers present in muscle and liver, mtDNA depletion in liver.

-	myoclonic seizures

-	liver failure

-	Alpers syndrome

-	encephalopathy

-	developmental delay

epilepsy

infantile

n/a

Stewart 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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Reference:

References in full format are accessible through the references page.

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Allele 1:	Allele 2:

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

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