POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations P587L and R232G.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

T251I
P587L2

R232G4

Alpers, epilepsy and hepatopathy, onset 5 months of age.

epilepsy

-	Alpers syndrome

-	encephalopathy

-	developmental delay

infantile

0.5

n/a

Ashley et al, 2008;

[view data]

R232G4

T251I
P587L2

Infantile hepatocerebral, presented at 3 months as hypotonia followed by mtDNA depletion in liver, dementia, and death at 6 months by ventilatory insufficiency.

-	hepatocerebral

hypotonic

dementia

-	respiratory deficiency

infantile

0.3

n/a

0.5

Ferrari et al, 2005;

[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.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 0.4
Std dev in onset in displayed cases: 0.1

Search criteria for patient entries:

Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

Mutations:

Allele 1:	Allele 2:

Separate multiple mutations with commas. Use "PNF" for non-missense mutations.

Match: Inclusive Exact

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