POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations A467T and C418R.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

A467T2

C418R1

Onset at 3 years of age, encephalopathy presenting with epilepsy and movement disorder (ataxia).

epilepsy

-	movement disorder (ataxia)

-	encephalopathy

childhood

n/a

Ashley et al, 2008;

[view data]

330

C418R1

A467T2

presented in status epilepticus, with a 24 h history of lethargy and vomiting, ataxia diagnosed at 17 months, diffuse encephalopathy,

-	status epilepticus

-	movement disorder (ataxia)

-	encephalopathy

vomiting

infantile

1.42

n/a

3.58

McCoy et al, 2011;

[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: 2.2
Std dev in onset in displayed cases: 0.8

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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