POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations E1143G and H1110Y.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

167

H1110Y1
Q1236H

W748S5
E1143G

Hypotonia at 8 weeks, seizures, hepatopathy, lactic acidemia, died of liver failure. 9% mtDNA copy number in muscle, 11% mtDNA copy number in liver.

-	lactic acidosis

-	liver failure

hypotonic

infantile

0.1

n/a

0.8

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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