POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R869Q and K319E.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

R869Q1

K319E3

Headaches/migraines, ataxia, peripheral neuropathy, muscle weakness, CPEO, abnromal EMG/NCV, ptosis, CPF abnormalities, abnormal histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 114% mtDNA copy number in blood.

-	movement disorder (ataxia)

-	peripheral neuropathy

-	abnormal muscle ultrastructure

-	ragged red fibers

-	muscle weakness

ptosis

PEO

-	headache/ migraine

adult

n/a

Tang 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.

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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.

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