POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations T851A and R1047W.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

186

R1047W3

T851A1

Juvenile Alpers, migraines at 12 years, ataxia, peripheral neuropathy, seizures, VPA-induced hepatopathy.

-	movement disorder (ataxia)

-	peripheral neuropathy

-	headache/ migraine

-	Alpers syndrome

-	encephalopathy

-	developmental delay

epilepsy

childhood

n/a

Wiltshire 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

:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: