POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R627Q and R309H.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

R627Q5

R309H3

Onset at 0.5 years with encephalopathy and hepatopathy. Diagnosed as alpers. Death at 1.3 years

-	encephalopathy

-	Alpers syndrome

-	developmental delay

epilepsy

infantile

0.5

n/a

1.3

Horvath et al, 2006;

[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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