POLG Pathogenicity Prediction Server

2 patient data entries in database for clusters 1 and 2 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

N864S1

T251I
P587L2

MNGIE-like, presented with GI symptoms, ptosis, neuropathy, muscle weakness.

-	muscle weakness

ptosis

juvenile

n/a

Van Goethem et al, 2003c;

[view data]

688

T914P1

A467T2

Hepatopathy

-	no known symptoms

juvenile

n/a

Ashley et al, 2008;

[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: 15.0
Std dev in onset in displayed cases: 0.0

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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