POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A957V and C1077G.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

211

C1077G3

A957V1

Developmental delay, hypotonia, dementia/encephalopathy, seizures, myoclonic seizures, elevated transaminases, FTT, abnormal EEG. 81% mtDNA copy number in muscle, 27% mtDNA copy number in blood.

-	myoclonic seizures

-	failure to thrive

hypotonic

-	encephalopathy

-	developmental delay

dementia

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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Separate multiple mutations with commas. Use "PNF" for non-missense mutations.

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