POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations T251I and D1184N.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

421

D1184N1

T251I
P587L2

Peripheral neuropathy, PEO, ataxia, epilepsy, fatty liver

epilepsy

-	movement disorder (ataxia)

-	peripheral neuropathy

PEO

childhood

n/a

Amiot et al, 2009;

[view data]

422

D1184N1

T251I
P587L2

Peripheral neuropathy, PEO, fatty liver

-	peripheral neuropathy

PEO

childhood

n/a

Amiot et al, 2009;

[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: 9.0
Std dev in onset in displayed cases: 0.0

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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