POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A467T and K1191N.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

108

K1191N1

A467T2

Onset at .5 years with encephalopathy, liver dysfunction, cardiopathy, diagnosed as Alpers, death at 1.3 years.

-	liver dysfunction

-	encephalopathy

-	cardiopathy

-	Alpers syndrome

-	developmental delay

epilepsy

infantile

0.5

n/a

1.3

Horvath et al, 2006;

[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:

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Allele 1:	Allele 2:

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