POLG Pathogenicity Prediction Server

3 patient data entries in database for mutations T251I and PNF.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

600

Nonsense
 mutation:
R709X

T251I
P587L2

PEO, complicated by dysphagia, myopathy.

myopathy

PEO

dysphagia

adult

n/a

Del Bo et al, 2003;

[view data]

605

Frameshift:
G785fs

T251I
P587L2

PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.

-	ragged red fibers

-	cox-negative

PEO

adult

n/a

Lamantea et al, 2002;

[view data]

695

Nonsense
 mutation:
W486X

T251I
P587L2

slowly progressive bilateral blepharoptosis, severe PEO, dysphagia, facial diparesis and exercise intolerance, presented, at the age of 60, with left-dominant postural tremor, reduced left arm swing during gait, postural instability, axonal sensory polyneuropathy, CT showed diffuse cerebral atrophy. Parkinsons.

-	polyneuropathy

-	exercise intolerance

ptosis

PEO

-	parkinson's disease

dysphagia

tremor

adult

n/a

Miguel 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 displayed patient cases: 3
Avg age of onset in displayed cases: 49.0
Std dev in onset in displayed cases: 3.0

Search criteria for patient entries:

Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

Mutations:

Allele 1:	Allele 2:

Separate multiple mutations with commas. Use "PNF" for non-missense mutations.

Match: Inclusive Exact

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