POLG Pathogenicity Prediction Server

2 patient data entries collated from reference Navarro-Sastre et al, 2012.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

448

G888D1

L304R3

Alpers, psychomotor retardation, epileptic encephalopathy, progressive cerebral atrophy and altered liver enzymes, mtDNA depletion. Patient 9. Age of onset information obtained from corresponding author via email.

-	encephalopathy

-	retardation

-	Alpers syndrome

-	developmental delay

epilepsy

infantile

n/a

1.33

449

L304R3

Y282D

Alpers, intractable convulsions and severe epileptic status, high mtDNA depletion (8% residual mtDNA). Patient 10. Age of onset information obtained from corresponding author via email.

-	Alpers syndrome

-	encephalopathy

-	developmental delay

epilepsy

infantile

n/a

1.75

n/a

^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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Mutations Entry IDs Clusters Reference Residue range

Reference:

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