POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations L304R and Y282D.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

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

1.75

n/a

Navarro-Sastre et al, 2012;

[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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