POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A467T and L1113P.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

127

L1113P1

A467T2

Encephalopathy, seizures, pancreatitis, hepatic failure, elevated transaminases, respiratory deficiency/failure, lactic acidosis, mycoplasma infection, pentobarbital induced liver failure. 57% mtDNA copy number in muscle, 78% mtDNA copy number in blood, Complex IV 20%.

-	lactic acidosis

-	liver failure

-	encephalopathy

-	pancreatitis

-	respiratory deficiency

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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