POLG Pathogenicity Prediction Server

1 patient data entry collated from reference Bortot et al, 2009.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

140

K755E2

L623W5

Hypoketotic, hypyoglycaemial, and liver dysfunction, hypotonia, psychomotor delay.

-	liver dysfunction

hypotonic

-	psychomotor delay

infantile

n/a

1.5

^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.

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