POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations P587L and C224Y.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

T251I
P587L2

C224Y4

Alpers, trunk hypotonia, seizures at 4 months, RC deficiency in liver. 28% mtDNA copy number in liver.

-	liver dysfunction

hypotonic

-	Alpers syndrome

-	encephalopathy

-	developmental delay

epilepsy

infantile

0.3

n/a

Sarzi et al, 2007;

[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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Reference:

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

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