POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations A467T and R1138C.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

128

R1138C1

A467T2

Onset 48 years with neuropathy, myopathy, SANDO, lactic acidosis PEO.

-	lactic acidosis

myopathy

PEO

adult

n/a

Wong et al, 2008;

[view data]

276

R1138C1

A467T2

Bilateral ptosis, distal lower limbs paresthesias, dysphagia, imbalance, inattention, ophthalmoparesis, Multiple mtDNA deletions detected by PCR in blood and muscle

ptosis

PEO

dysphagia

adult

n/a

Milone 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.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 47.0
Std dev in onset in displayed cases: 1.0

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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