POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations A467T and R227P.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

A467T2

R227P4

Severe childhood multi-system disorder, epilepsy and failure to thrive, GI problems, hypotonia, retardation.

epilepsy

-	failure to thrive

hypotonic

-	retardation

-	GI problems

infantile

0.5

n/a

de Vries et al, 2007;

[view data]

A467T2

R227P4

FTT, died after epilepticus.

epilepsy

-	failure to thrive

infantile

n/a

Blok 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.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 0.8
Std dev in onset in displayed cases: 0.3

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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