POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R807C and E1143G.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

159

R807C3

W748S5
E1143G

epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle.

-	status epilepticus

-	myoclonic seizures

epilepsy

-	epilepsia partialis

-	liver failure

-	pschomotor regression

-	lowered consciousness

vomiting

infantile

n/a

Isohanni 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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