POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations L304R and R1081P.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

R1081P3

L304R3

Age 10, encephalopathy, ataxia, seizures, myoclonic seizures, pyramidal signs, dystonia, choria, muscle weakness, CPEO, ptosis, elevated alanine, abnormal EEG, MRS/lactate peak. 79% mtDNA copy number in blood.

-	myoclonic seizures

-	movement disorder (ataxia)

-	muscle weakness

ptosis

PEO

-	encephalopathy

dystonia

childhood

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 :.: