POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations T251I and P116Q.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

530

P116Q

T251I
P587L2

He presented migraine by age 7 and complained of fatigue during exercise by age 12. mild diffuse muscle hypotonia and flat feet. ptosis at 14. Brain MRI showed mild white matter hyperintensity.

ptosis

hypotonic

-	headache/ migraine

childhood

n/a

Scuderi et al, 2015;

[view data]

531

P116Q

T251I
P587L2

delayed psychomotor development. At age 3, neurological examination showed muscular hypotonia, joint laxity, absent deep tendon reflexes, broadbased gait, scapular winging, accentuation of lumbar lordosis and flat feet. intellectual disability. progressive cognitive impairment. mild myopathy.

myopathy

hypotonic

childhood

n/a

Scuderi et al, 2015;

[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: 5.0
Std dev in onset in displayed cases: 2.0

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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