POLG Pathogenicity Prediction Server

2 patient data entries in database for mutation Y951N.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

206

Y951N1

Peripheral neuropathy, elevated 3-methylglutaconic acid.

-	peripheral neuropathy

adult

n/a

Tang et al, 2011;

[view data]

335

Y951N1

bilateral cataracts, ovarian dysgenesis and distal muscle weakness and atrophy, progressive muscle weakness, seizure like episode, atrophy of arm and hand muscles,

-	muscle weakness

juvenile

n/a

Bekheirnia et al, 2012;

[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: 20.0
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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