POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations Y831C and H1134R.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

181

Y831C

H1134R1

Anorexia, FTT, drowsiness, hepatomegaly, peripheral odema, liver failure. Onset at 3 months with infantile hepatocerebral mtDNA depletion. Death at 6 months. Asymptomatic mother and father.

-	liver failure

-	hepatocerebral

-	failure to thrive

-	hepatomegaly

infantile

0.3

n/a

0.5

Taanman et al, 2009;

[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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