POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations E1143G and T914P.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

160

T914P1

W748S5
E1143G

developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3.

-	status epilepticus

-	myoclonic seizures

-	epilepsia partialis

-	movement disorder (ataxia)

-	developmental delay

vomiting

infantile

2.5

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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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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