POLG Pathogenicity Prediction Server

1 patient data entry in database for clusters 5 and 5 in age group "infantile".

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

552

W748S5

W748S5

Epilepsy, stroke-like episode, Ataxia, Neuropathy.

epilepsy

-	movement disorder (ataxia)

stroke

infantile

n/a

Tzoulis et al, 2014;

[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 patient cases marked as outliers: 1 (cases excluded from avg: 552)

Search criteria for patient entries:

Mutations Entry IDs Clusters Reference Residue range

Patients for cluster combinations:

First cluster: Second cluster:

Age group: Any Infantile Childhood Juvenile Adult

Reference:

References in full format are accessible through the references page.

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