POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R807P and D1184N.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

180

D1184N1

R807P3

Growth retardation, hypotonia, RC deficiency in muscle, hepatic failure. Onset 5 months of age, death at 11 months of age. 3% mtDNA copy number in muscle, 25 mtDNA copy number in liver.

-	liver failure

hypotonic

-	growth retardation

-	retardation

infantile

0.5

n/a

Sarzi et al, 2007;

[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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