POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations H932Y and G1051R.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

202

G1051R3

H932Y1

PEO, erectile dysfunction, progressive hearing loss, dysarthria, ataxic gait, Romberg sign, severe peripheral axonal sensorimotor polyneuropathy.

-	movement disorder (ataxia)

-	polyneuropathy

-	axonal sensorimotor polyneuropathy

PEO

-	dysarthria

-	hearing loss

juvenile

n/a

Mancuso et al, 2004a;

[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.

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Allele 1:	Allele 2:

Separate multiple mutations with commas. Use "PNF" for non-missense mutations.

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