POLG Pathogenicity Prediction Server
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8 patient data entries in database for mutation A143V.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
5G848S1
A143V1
Evidence of maternal inheritance, developmental delay, hypotonia, dementia/encephalopathy, seizures, myoclonic seizures, hepatic failure, elevated transaminases, high CSF lactate, abnormal EEG, leukodystrophy, MRS/lactate peak, abnormal MRI. 71% mtDNA copy number in blood.
-myoclonic seizures
-liver failure
-hypotonic
-encephalopathy
-developmental delay
-dementia
childhood
n/a4n/aTang et al, 2011;

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6G848S1
A143V1
Ataxia, peripheral neuropathy, hearing loss, abnormal MRI, COX deficiency, developmental delay, seizure, delayed gastric emptying, CPK abnormalities, sister died at 2.5 years. 111% mtDNA copy number in blood. Patient II-49.
-movement disorder (ataxia)
-peripheral neuropathy
-developmental delay
-delayed gastric emptying
-CPK abnormalities
-hearing loss
adult
n/a38n/aTang et al, 2011;

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7G848S1
A143V1
Seizures, intractable seizure, abnormal EEG, abnormal MRI. 43% mtDNA copy number in blood.
-intractable seizure
childhood
n/a8n/aTang et al, 2011;

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8G848S1
A143V1
Leigh disease, developmental delay, FTT, abnormal EEG/MRI, hypotonia, seizures, vomiting, hemiplegia, behavior change. 136% mtDNA copy number in muscle and 57% mtDNA copy number in blood.
-hemiparesis
-failure to thrive
-hypotonic
-developmental delay
-vomiting
-leigh syndrome
childhood
n/a4n/aTang et al, 2011;

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9A467T2
A143V1
Dementia/encephalopathy, headaches/migraines, ataxia, seizures, peripheral neuropathy, exercise intolerance, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, hearing loss, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood.
-movement disorder (ataxia)
-cerebellar atrophy
-peripheral neuropathy
-muscle weakness
-exercise intolerance
-PEO
-headache/ migraine
-encephalopathy
-dementia
-hearing loss
adult
n/a49n/aTang et al, 2011;

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10L304R3
A143V1
Cerebral cavernous malformation, teen onset CPEO. 110% mtDNA copy number in blood.
-PEO
juvenile
n/a22n/aTang et al, 2011;

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405A143V1
Onset with seizures at 6 months, alpers syndrome. Muscle mtDNA depletion.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.5n/a2Sarzi et al, 2007;

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420W748S5
E1143G
A143V1
Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-dysarthria
-hearing loss
adult
4049n/aAmiot et al, 2009;

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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: 20.7
Std dev in onset in displayed cases: 18.0

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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