POLG Pathogenicity Prediction Server

4 patient data entries collated from reference Schulte et al, 2009.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

123

W748S5

A467T2

Dysarthria, sensory neuropathy, PEO, minor cognitive dysfunction, depression.

PEO

-	dysarthria

adult

n/a

144

R1096H3

R627Q5

At 43 years of age, cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, distal muscle wasting, mild cerebellar atrophy.

-	cerebellar ataxia

-	movement disorder (ataxia)

-	cerebellar atrophy

PEO

dysphagia

-	dysarthria

-	distal muscle wasting

adult

n/a

147

G848S1

R627Q5

At 35 years of age, dysarthria/dysphagia, sensory neuropathy, PEO, distal muscle wasting, phobia anxiety disorder, mild cerebellar atrophy (MRI)

-	cerebellar atrophy

PEO

dysphagia

-	dysarthria

-	distal muscle wasting

adult

n/a

157

W748S5

W748S5

cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, epilepsy, moderate cerebellar atrophy.

epilepsy

-	cerebellar ataxia

-	movement disorder (ataxia)

-	cerebellar atrophy

PEO

dysphagia

-	dysarthria

adult

n/a

^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.

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Mutations Entry IDs Clusters Reference Residue range

Reference:

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