POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations T851A and N468D.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

351

T851A1

N468D2

CPEO, neuropathy, ataxia, hepatopathy, dysphagia/ dysarthria, gastrointestinal symptoms, severe diarrhoea alternating with constipation,

-	movement disorder (ataxia)

PEO

dysphagia

-	dysarthria

childhood

n/a

Woodbridge et al, 2012;

[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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