POLG Pathogenicity Prediction Server

1 patient data entry in database for clusters P587L and P587L in age group "juvenile".

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

588

T251I
P587L2

T251I
P587L2

Alpers. nocturnal nausea followed by loss of consciousness without motor relinquishing. obsessive–compulsive disorder.

-	Alpers syndrome

-	encephalopathy

-	developmental delay

epilepsy

juvenile

n/a

Stewart 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.

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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