POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A467T and Q497H.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

627

Q497H2
W748S5
E1143G

A467T2

Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay

-	movement disorder (ataxia)

-	developmental delay

dementia

-	hearing loss

juvenile

n/a

Wong et al, 2008;

[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.

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