POLG Pathogenicity Prediction Server

2 patient data entries in database for mutation R1081Q.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

195

R1081Q3

A862T1

Onset at 2.5 years with epilepsy, diagnosed as Alpers. Complex IV 33%. showed psychomotor regression around age 2.5 years, and developed repetitive generalized tonic–clonic seizures. Myoclonic jerks.

epilepsy

-	Alpers syndrome

-	encephalopathy

-	developmental delay

childhood

n/a

Ferreira et al, 2011;

[view data]

220

R1081Q3

Muscle weakness, unsteady gait, ataxia, stiff legs, resting tremor, diabetes mellitus. Complex I 50%, Complex IV 45%. de novo mutation. Slight cerebellar atrophy.

-	movement disorder (ataxia)

-	cerebellar atrophy

-	muscle weakness

tremor

juvenile

n/a

Ferreira et al, 2011;

[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: 9.5
Std dev in onset in displayed cases: 6.5

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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