POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A467T and H754Q.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

118

H754Q2

A467T2

Developmental delay, intractable seizure/refractory, hepatic failure, cerebellar atrophy, liver failure. 87% mtDNA copy number in blood.

-	intractable seizure

-	cerebellar atrophy

-	liver failure

-	developmental delay

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:

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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