POLG Pathogenicity Prediction Server
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8 patient data entries in database for mutation R232H.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
20G737R5
S64L
R232H4
Peripheral neuropathy, tremor, ataxia.
-movement disorder (ataxia)
-peripheral neuropathy
-tremor
childhood
10n/an/aHarrower et al, 2008;

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21G848S1
R232H4
Hypotonia, microcephaly, abnormal MRI, hepatomegaly, FTT, hypoglycaemia, ptosis. Onset at 6 months with Leighs syndrome and death at 23 months. 3% mtDNA copy number in muscle and 12% mtDNA copy number in liver.
-ptosis
-failure to thrive
-hypotonic
-hepatomegaly
-microcephaly
infantile
0.5n/a2Taanman et al, 2009;

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229W748S5
E1143G
R232H4
Alpers, age of onset 6 months, age of death 13 months. 41% mtDNA copy number. During the first 6 months of life, he was considered healthy, but was irritable with colic-like symptoms. failure to thrive, delayed motor development. myoclonus. leftsided hemiparesis.
-myoclonic seizures
-hemiparesis
-failure to thrive
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.5n/a1.08Kollberg et al, 2006;

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325H277L3
R232H4
A467T2
Developmental Delay or Regression, motor paresis, hypotonia, vomiting, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, clinical diagnosis of infantile hepatopathy
-hypotonic
-developmental delay
-vomiting
infantile
0.17n/a0.25Hunter et al, 2011;

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326R232H4
H277L3
A467T2
Developmental Delay or Regression, hypotonia, vomiting, Abnormal Liver Enzymes, liver mtDNA depletion, clinical diagnosis of infantile hepatopathy
-hypotonic
-developmental delay
-vomiting
infantile
0.125n/a0.25Hunter et al, 2011;

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433R232H4
Axonal sensorimotor neuropathy, sensory ataxia, parkinsonism.
-movement disorder (ataxia)
-sensory ataxia
-axonal sensorimotor polyneuropathy
-parkinson's disease
adult
25n/an/aRouzier et al, 2013;

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434R232H4
Axonal sensorimotor neuropathy
-axonal sensorimotor polyneuropathy
adult
30n/an/aRouzier et al, 2013;

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435R232H4
Axonal sensorimotor neuropathy, sensory ataxia. Very mild axonal neuropathy identified in this patient's daughter.
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-axonal sensorimotor polyneuropathy
adult
20n/an/aRouzier et al, 2013;

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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: 8
Avg age of onset in displayed cases: 10.8
Std dev in onset in displayed cases: 11.7

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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