POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations G737R and E1143G.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

154

R943C1
E1143G

G737R5

Onset at age 3 with dementia,lactic acidosis, renal tubulopathy, dysmorphic features, cataract, short stature, myopathy.

-	lactic acidosis

myopathy

dementia

-	renal tubulopathy

childhood

n/a

Wong 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:

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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