POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations G737R and A767D.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

151

A767D2

G737R5

Onset at 0.8 years with encephalopathy, liver dysfunction, diagnosed as Alpers. Death at 1 year.

-	liver dysfunction

-	encephalopathy

-	Alpers syndrome

-	developmental delay

epilepsy

infantile

0.8

n/a

Horvath et al, 2006;

[view data]

535

A767D2

G737R5

Epilepsy, Myopathy.

epilepsy

myopathy

infantile

n/a

Sitarz et al, 2014;

[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.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 0.9
Std dev in onset in displayed cases: 0.1

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 :.: