POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R227W and D1184N.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

D1184N1

R227W4

Severe childhood multi-system disorder- age of onset 4-7 months, age of death 26-43 months. Initial symptom was failure to thrive. Other symptoms included severe retardation, GI problems and hypotonia. Also hearing loss and elevated lactate in serum and CSF. Ragged red fibers were observed indicating mtDNA depletion

-	ragged red fibers

-	failure to thrive

hypotonic

-	retardation

-	GI problems

-	hearing loss

infantile

0.5

n/a

de Vries 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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