POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations G848S and R232H.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

G848S1

R232H4

Hypotonia, microcephaly, abnormal MRI, hepatomegaly, FTT, hypoglycaemia, ptosis. Onset at 6 months with Leighs syndrome and death at 23 months. 3% mtDNA copy number in muscle and 12% mtDNA copy number in liver.

ptosis

-	failure to thrive

hypotonic

-	hepatomegaly

-	microcephaly

infantile

0.5

n/a

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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