POLG Pathogenicity Prediction Server

4 patient data entries in database for clusters P587L and P587L in age group "adult".

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

T251I
P587L2

T251I
P587L2

PEO with myopathy, chronic bronchitis.

myopathy

PEO

-	chronic bronchitis

adult

n/a

Horvath et al, 2006;

[view data]

T251I
P587L2

T251I
P587L2

PEO with myopathy

myopathy

PEO

adult

n/a

Horvath et al, 2006;

[view data]

T251I
P587L2

T251I
P587L2

PEO with myopathy

myopathy

PEO

adult

n/a

Horvath et al, 2006;

[view data]

T251I
P587L2

T251I
P587L2

Mild bilateral ptosis, PEO.

ptosis

PEO

adult

n/a

Stewart 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: 4
Avg age of onset in displayed cases: 55.5
Std dev in onset in displayed cases: 8.8

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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