POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations R227W and G848S.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

G848S1

R227W4

Born with severe hypotonia, general muscle weakness, hearing loss, GI problems, mild cerbral atrophy, mtDNA depletion in muscle and GI, death via respiratory failure at 20 days.

-	muscle weakness

hypotonic

-	GI problems

-	respiratory deficiency

-	hearing loss

infantile

0.01

n/a

0.1

Giordano et al, 2009;

[view data]

336

R227W4

G848S1

Complex I deficiency, Hypotonia, lethargy, respiratory distress, metabolic acidosis, FTT, encephalopathy

-	failure to thrive

hypotonic

-	encephalopathy

infantile

0.01

0.06

n/a

Calvo 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: 0.0
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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