POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations G848S and P1073L.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

183

P1073L3

G848S1

pschomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis.

-	lactic acidosis

-	liver dysfunction

-	GI dysmotility

infantile

0.4

n/a

0.9

Kurt et al, 2010;

[view data]

184

P1073L3

G848S1

Hypotonia, FTT, gastro-oesophaeal reflux. 36% mtDNA copy number in muscle, 62% mtDNA copy number in blood.

-	failure to thrive

hypotonic

infantile

n/a

Tang 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: 1.2
Std dev in onset in displayed cases: 0.8

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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