POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R1096C and G848S.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

182

R1096C3

G848S1

Developmental delay, hypotonia, dementia/encephalopathy, exercise intolerance, muscle weakness, easy fatigability, ptosis, GI reflux, delayed gastric emptying, cyclic vomiting, hepatic failure, elevated transaminases, lactic acidosis, short statue, FTT. 53% mtDNA copy number in blood.

-	lactic acidosis

-	muscle weakness

-	exercise intolerance

ptosis

-	liver failure

-	failure to thrive

hypotonic

-	encephalopathy

-	developmental delay

dementia

vomiting

GI reflux

-	cyclic vomiting

-	delayed gastric emptying

infantile

n/a

Tang et al, 2011;

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

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