POLG Pathogenicity Prediction Server

1 patient data entry in database for mutation S433C.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

595

E1143G

S433C1

PEO, ataxia, peripheral neuropathy, and episodes of encephalopathy. Asymptomatic mother had also S433C.

-	movement disorder (ataxia)

-	peripheral neuropathy

PEO

-	encephalopathy

unknown

n/a

Hudson et al, 2006;

[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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