POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A143V and A467T.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

A467T2

A143V1

Dementia/encephalopathy, headaches/migraines, ataxia, seizures, peripheral neuropathy, exercise intolerance, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, hearing loss, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood.

-	movement disorder (ataxia)

-	cerebellar atrophy

-	peripheral neuropathy

-	muscle weakness

-	exercise intolerance

PEO

-	headache/ migraine

-	encephalopathy

dementia

-	hearing loss

adult

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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