POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations T251I and E1142G.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

584

W748S5
E1142G

T251I
P587L2

Akinetic-rigid Parkinsons. impaired balance, freezing, and increased salivation. Constipation and muscle cramps. He had arterial hypertension and mild normocytic anemia. cytochrome c oxidase-negative muscle fibers.

-	parkinson's disease

adult

n/a

YlÃ¶nen et al, 2013;

[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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