POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A467T and R807H.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

R807H3

A467T2

Developmental delay, hypotonia, seizures, hepatic failure, elevated transaminases, renal tubular disease, failure to thrive. 18% mtDNA copy number in blood.

-	liver failure

-	failure to thrive

hypotonic

-	developmental delay

infantile

n/a

Tang et al, 2011;

[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 :.: