POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations R627W and W748S.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

450

R627W5

W748S5

Generalized tonic-clonic seizures which, within 3 days, evolved to epilepsia partialis continua (EPC) with continuous left-sided myoclonic jerks. Multifocal brain lesions and global brain atrophy.

-	epilepsia partialis

juvenile

Nolte et al, 2013;

[view data]

451

R627W5

W748S5

This previously healthy 17-year-old patient developed repeated complex partial seizures starting with visual sensations, as well as myoclonic jerks of her right arm that rapidly evolved to generalized tonic-clonic seizures. Repeated complex partial seizures and considerable mental impairment.

-	no known symptoms

juvenile

n/a

Nolte et al, 2013;

[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: 15.0
Std dev in onset in displayed cases: 2.0

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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