POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R627W and T914P.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

142

T914P1

R627W5

reported as Alpers, onset at birth, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 5% mtDNA copy number in liver, 54% mtDNA copy number in muscle.

epilepsy

-	movement disorder (ataxia)

-	encephalopathy

-	Alpers syndrome

-	developmental delay

infantile

0.01

n/a

Ashley et al, 2008;

[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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