POLG Pathogenicity Prediction Server
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9 patient data entries in database for clusters 1 and 3 in age group "infantile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
180D1184N1
R807P3
Growth retardation, hypotonia, RC deficiency in muscle, hepatic failure. Onset 5 months of age, death at 11 months of age. 3% mtDNA copy number in muscle, 25 mtDNA copy number in liver.
-liver failure
-hypotonic
-growth retardation
-retardation
infantile
0.5n/a1Sarzi et al, 2007;

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182R1096C3
G848S1
Developmental delay, hypotonia, dementia/encephalopathy, exercise intolerance, muscle weakness, easy fatigability, ptosis, GI reflux, delayed gastric emptying, cyclic vomiting, hepatic failure, elevated transaminases, lactic acidosis, short statue, FTT. 53% mtDNA copy number in blood.
-lactic acidosis
-muscle weakness
-exercise intolerance
-ptosis
-liver failure
-failure to thrive
-hypotonic
-encephalopathy
-developmental delay
-dementia
-vomiting
-GI reflux
-cyclic vomiting
-delayed gastric emptying
infantile
n/a2n/aTang et al, 2011;

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183P1073L3
G848S1
pschomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis.
-lactic acidosis
-liver dysfunction
-GI dysmotility
infantile
0.4n/a0.9Kurt et al, 2010;

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184P1073L3
G848S1
Hypotonia, FTT, gastro-oesophaeal reflux. 36% mtDNA copy number in muscle, 62% mtDNA copy number in blood.
-failure to thrive
-hypotonic
infantile
n/a2n/aTang et al, 2011;

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199R1096C3
T914P1
reported as Alpers, onset at <1 year, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 7% mtDNA copy number in liver, 23% mtDNA copy number in muscle
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
infantile
1n/an/aAshley et al, 2008;

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211C1077G3
A957V1
Developmental delay, hypotonia, dementia/encephalopathy, seizures, myoclonic seizures, elevated transaminases, FTT, abnormal EEG. 81% mtDNA copy number in muscle, 27% mtDNA copy number in blood.
-myoclonic seizures
-failure to thrive
-hypotonic
-encephalopathy
-developmental delay
-dementia
infantile
n/a2n/aTang et al, 2011;

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221D1184N1
S1095R3
Failure to thrive, feeding problems, intestinal pseudo-obstruction, congenital deafness, demyelinating sensomotor neurpathy, impaired liver function, death at age 3.
-demyelinating neuropathy
-failure to thrive
-GI dysmotility
infantile
n/an/a3Blok et al, 2009;

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235T851A1
H277L3
Onset at 6 months of age, epilepsy, hepatopathy. 4% mtDNA copy number in liver, 32% mtDNA copy number in muscle.
-epilepsy
infantile
0.5n/an/aAshley et al, 2008;

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448G888D1
L304R3
Alpers, psychomotor retardation, epileptic encephalopathy, progressive cerebral atrophy and altered liver enzymes, mtDNA depletion. Patient 9. Age of onset information obtained from corresponding author via email.
-encephalopathy
-retardation
-Alpers syndrome
-developmental delay
-epilepsy
infantile
1n/a1.33Navarro-Sastre et al, 2012;

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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: 9
Avg age of onset in displayed cases: 1.4
Std dev in onset in displayed cases: 0.9

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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