POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations T251I and E1136K.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

E1136K1

T251I
P587L2

Vomiting, FTT, hypotonic, lactic acidemia, hypoglycemia, bilateral dense cataracts, hepatomegaly, jaundice, septicemia. infantile hepatocerebral mtDNA depletion. Mother with E1136K allele reported as asymptomatic. Father with T251I/P587L allele reported as asymptomatic.

-	lactic acidosis

-	hepatocerebral

jaundice

-	failure to thrive

hypotonic

vomiting

-	hepatomegaly

-	hypoglycemia

-	septicemia

infantile

0.01

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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