POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R227W and A467T.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

A467T2

R227W4

Onset at 4 months with FTT, dementia, hypotonia, seizures, myoclonus, GI problems, hepatopathy, hearing loss, delayed myelinisation. Death at 10 months

-	myoclonic seizures

-	delayed myelination

-	failure to thrive

hypotonic

dementia

-	GI problems

-	hearing loss

infantile

0.3

n/a

0.8

de Vries 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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Allele 1:	Allele 2:

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

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