POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations Q1236H,PNF.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

624

Q1236H
Frameshift:
p.T849H(insC)fs868X

A467T2

Alpers, chorea, microcephaly, leukodystrophy, Seizures, Dementia, developmental delay.

-	developmental delay

dementia

-	Alpers syndrome

-	microcephaly

-	encephalopathy

epilepsy

infantile

1.5

n/a

Wong et al, 2008;

[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.

Search criteria for patient entries:

Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

Mutations:

Allele 1:	Allele 2:

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

Match: Inclusive Exact

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