POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R1096C and T914P.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

199

R1096C3

T914P1

reported as Alpers, onset at <1 year, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 7% mtDNA copy number in liver, 23% mtDNA copy number in muscle

epilepsy

-	movement disorder (ataxia)

-	encephalopathy

-	Alpers syndrome

-	developmental delay

infantile

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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