POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations H277L and T851A.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

235

T851A1

H277L3

Onset at 6 months of age, epilepsy, hepatopathy. 4% mtDNA copy number in liver, 32% mtDNA copy number in muscle.

epilepsy

infantile

0.5

n/a

Ashley et al, 2008;

[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:

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