POLG Pathogenicity Prediction Server

1 patient data entry in database for the exact mutation A143V.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

405

A143V1

Onset with seizures at 6 months, alpers syndrome. Muscle mtDNA depletion.

-	Alpers syndrome

-	encephalopathy

-	developmental delay

epilepsy

infantile

0.5

n/a

Sarzi et al, 2007;

[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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Mutations:

Allele 1:	Allele 2:

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

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