POLG Pathogenicity Prediction Server
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68 patient data entries collated from reference Tang et al, 2011.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
4A467T2
F88L1
Clinical indications reported as N/A only information provided is age of patient and 71% mtDNA copy number in blood.
-no known symptoms
adult
42n/an/a
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
4n/an/a
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
38n/an/a
7G848S1
A143V1
Seizures, intractable seizure, abnormal EEG, abnormal MRI. 43% mtDNA copy number in blood.
-intractable seizure
childhood
8n/an/a
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
4n/an/a
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
49n/an/a
10L304R3
A143V1
Cerebral cavernous malformation, teen onset CPEO. 110% mtDNA copy number in blood.
-PEO
juvenile
22n/an/a
25H932Y1
T251I
P587L2
Peripheral neuropathy, exercise intolerance, muscle cramps after exercise, easy fatigability, arrythmia, CPEO, abnormal EMG/NCV, ptosis, cataract, abnormal muscle histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 123% mtDNA copy number in blood.
-peripheral neuropathy
-abnormal muscle histology
-abnormal muscle ultrastructure
-ragged red fibers
-exercise intolerance
-ptosis
-PEO
adult
31n/an/a
26H932Y1
T251I
P587L2
Peripheral neuropathy, ptosis, muscle weakness, CPK abnormalities. 77% mtDNA copy number in blood.
-peripheral neuropathy
-muscle weakness
-ptosis
-CPK abnormalities
adult
41n/an/a
27G848S1
T251I
P587L2
Ocular bulbar weakness, peripheral neuropathy, muscle weakness, CPEO, ptosis, hypothyroidism, abnormal muscle histology, abnormal muscle ultrastructure, large mitochondrial proliferation, ragged red fibers. 96% mtDNA copy number in blood. Patient II-44.
-peripheral neuropathy
-abnormal muscle histology
-abnormal muscle ultrastructure
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-ocular bulbar weakness
-hypothyroidism
adult
81n/an/a
28K1191N1
T251I
P587L2
Stroke/ischaemic episodes, peripheral neuropathy, CPEO, abnormal EMG/NCV, ptosis, muscle weakness, headache/migraine. 167% mtDNA copy number in blood.
-peripheral neuropathy
-muscle weakness
-ptosis
-PEO
-stroke
-headache/ migraine
-ischaemic episodes
adult
39n/an/a
48N1157S1
T251I
P587L2
N/A (as reported in Tang 2011 JMG)
-no known symptoms
childhood
9n/an/a
50L304R3
L304R3
Seizures, ptosis, elevated transaminases, lactic acidosis, elevated dopamine, abnormal MRI. 48% mtDNA copy number in muscle, 26% mtDNA copy number in liver.
-lactic acidosis
-ptosis
infantile
4n/an/a
51L304R3
L304R3
CPEO, muscle weakness, ptosis, ataxia. 53% mtDNA copy number in blood.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
childhood
10n/an/a
55L304R3
L304R3
CPEO, ptosis, ataxia, abnormal EMG/NCV, cerebellar atrophy, large mitochondrial proliferation, ragged red fibers, easy fatigability, abnormal muscle histology, hypotonia, lactic acidosis, high CSF lactate, organic aciduria/tiglyglycine, low plasma carnitine. 36% mtDNA copy number in muscle, 22% mtDNA copy number in blood.
-lactic acidosis
-movement disorder (ataxia)
-cerebellar atrophy
-abnormal muscle histology
-ragged red fibers
-ptosis
-PEO
-hypotonic
childhood
9n/an/a
56L304R3
L304R3
Peripheral neuropathy exercise intolerance, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, lactic acidosis, CPK abnormalities, short stature, FTT, abnormal VERS, developmental delay, abnormal respiratory enzymes, ragged red fibers. 37% mtDNA copy number in muscle, 20% mtDNA copy number in blood.
-lactic acidosis
-peripheral neuropathy
-ragged red fibers
-exercise intolerance
-ptosis
-PEO
-failure to thrive
-developmental delay
-CPK abnormalities
childhood
12n/an/a
57L304R3
L304R3
Peripheral neuropathy, exercise intolerance, muscle weakness, abnormal EMG/NCV, ptosis, lactic acidosis, COX deficiency, CPEO. 58% mtDNA copy number in blood.
-lactic acidosis
-peripheral neuropathy
-muscle weakness
-exercise intolerance
-ptosis
-PEO
childhood
9n/an/a
58L304R3
L304R3
Peripheral neuropathy exercise intolerance, muscle weakness, easy fatigability, abnormal EMG/NCV, ptosis, CPK abnormalities, short stature, abnormal muscle histology, ragged red fibers, elevated pyruvate. 45% mtDNA copy number in blood.
-peripheral neuropathy
-abnormal muscle histology
-ragged red fibers
-muscle weakness
-exercise intolerance
-ptosis
-CPK abnormalities
juvenile
23n/an/a
61G737R5
L304R3
Muscle weakness, ptosis, ophthalmoparesis/CPEO. 61% mtDNA copy number in blood.
-muscle weakness
-ptosis
-PEO
adult
54n/an/a
63R1081P3
L304R3
Age 10, encephalopathy, ataxia, seizures, myoclonic seizures, pyramidal signs, dystonia, choria, muscle weakness, CPEO, ptosis, elevated alanine, abnormal EEG, MRS/lactate peak. 79% mtDNA copy number in blood.
-myoclonic seizures
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-encephalopathy
-dystonia
childhood
10n/an/a
65A467T2
S305R3
Liver failure. 51% mtDNA copy number in muscle, 9% mtDNA copy number in liver, 87% mtDNA copy number in blood.
-liver failure
infantile
1n/an/a
70R869Q1
K319E3
Headaches/migraines, ataxia, peripheral neuropathy, muscle weakness, CPEO, abnromal EMG/NCV, ptosis, CPF abnormalities, abnormal histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 114% mtDNA copy number in blood.
-movement disorder (ataxia)
-peripheral neuropathy
-abnormal muscle ultrastructure
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-headache/ migraine
adult
44n/an/a
74G737R5
G426S1
Seizures, intractable seizures, abnormal EEG, abnormal MRI. 135% mtDNA copy number in blood.
-intractable seizure
childhood
11n/an/a
82A467T2
A467T2
Stroke/ischaemic episodes, ataxia, seizures, myoclonic seizures, peripheral neuropathy, CPEO. 114% mtDNA copy number in blood.
-myoclonic seizures
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-stroke
-ischaemic episodes
adult
40n/an/a
83A467T2
A467T2
Age 19.6, developmental delay, after 18 years, rapid onset of muscle weakness, ataxia, myoclonic seizures, optic atrophy, diplopia, dysarthria. 102% mtDNA copy number in blood.
-myoclonic seizures
-movement disorder (ataxia)
-optic atrophy
-muscle weakness
-diplopia
-developmental delay
-dysarthria
juvenile
2018n/a
86A467T2
A467T2
Ataxia, peripheral neuropathy, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, delayed gastric emptying, diarrhoea, constipation, lactic acidosis, abnormal muscle ultratstructure, ragged red fibers. 75% mtDNA copy number in blood.
-lactic acidosis
-movement disorder (ataxia)
-peripheral neuropathy
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-delayed gastric emptying
adult
46n/an/a
93S1095R3
A467T2
Hypotonia, hepatic failure, elevated transaminases, respiratory deficiency/failure, FTT, developmental delay, GI reflux, delayed gastric emptying, dicarboxylic aciduria, high CSF protein, abnormal muscle histology, COX deficiency, vomiting. 12% mtDNA copy number in muscle, 42% mtDNA copy number in blood, ETC low. ptosis, poor head control. Central hypotonia, and absent deep tendon reflexes. He developed hypoxia, ascites, tachycardia, intermittent fevers, and sepsis. Some severely cytochrome oxidase-deficient muscle fibers were present.
-abnormal muscle histology
-ptosis
-liver failure
-failure to thrive
-hypotonic
-developmental delay
-vomiting
-GI reflux
-delayed gastric emptying
-respiratory deficiency
infantile
n/a0.3330.583
94R807C3
A467T2
Encephalopathy/dementia, liver failure, cholestasis, lactic acidosis, altered mental status. 47% mtDNA copy number in muscle, 8% mtDNA copy number in liver, ETC low.
-lactic acidosis
-liver failure
-encephalopathy
-dementia
-altered mental status
-cholestasis
infantile
1n/an/a
95R807H3
A467T2
Developmental delay, hypotonia, seizures, hepatic failure, elevated transaminases, renal tubular disease, failure to thrive. 18% mtDNA copy number in blood.
-liver failure
-failure to thrive
-hypotonic
-developmental delay
infantile
1n/an/a
97T914P1
A467T2
Developmental delay, hypotonia, seizures, myoclonic seizures, hemiparesis, intractable seizure, elevated transaminases, FTT, lactic acidosis, high CSF lactate, elevated pyruvate, high CSF protein, dementia/encephalopathy. 112% mtDNA copy number in muscle, 63% mtDNA copy number in blood.
-lactic acidosis
-myoclonic seizures
-hemiparesis
-intractable seizure
-failure to thrive
-hypotonic
-encephalopathy
-developmental delay
-dementia
infantile
0.9n/an/a
100T914P1
A467T2
Developmental delay, seizures, myoclonic seizures, intractable seizure, respiratory deficiency/failure, abnormal EEG, abnormal MRI. 60% mtDNA copy number in blood.
-myoclonic seizures
-intractable seizure
-developmental delay
-respiratory deficiency
infantile
0.8n/an/a
101T914P1
A467T2
Developmental delay, hypotonia, dementia/encephalopathy, seizures, intractable seizure, lactic acidosis, high CSF lactate, abnormal MRI, no liver problem at 3.5 years. 24% mtDNA copy number in blood.
-lactic acidosis
-intractable seizure
-hypotonic
-encephalopathy
-developmental delay
-dementia
childhood
3n/an/a
102T914P1
A467T2
Seizures, hepatic failure, duplicated cyst of ileum, FTT, diarrhea. 13% mtDNA copy number in liver.
-liver failure
-failure to thrive
-diarrhea
infantile
4n/an/a
103T914P1
A467T2
Developmental delay, headaches/migraines, seizures, hemiparesis, intractable seizure, high CSF lactate, high CSF protein, hearing loss, abnormal EEG, increased signal basal ganglia, abnormal MRI. 88% mtDNA copy number in blood.
-hemiparesis
-intractable seizure
-headache/ migraine
-developmental delay
-hearing loss
childhood
5n/an/a
107C1188R1
A467T2
Developmental delay, seizures, abnormal MRI, hypotonia, low in blood.
-hypotonic
-developmental delay
childhood
3n/an/a
109R852C1
G11D
A467T2
Seizures, myoclonic seizures, intractable seizures, hepatic failure, elevated transaminases, Apnes/Hypoventilation, respiratory deficiency/failure, lactic acidosis, organic aciduria/tiglyglycine, low plasma carnitine, abnormal EEG. 108% mtDNA copy number in blood.
-lactic acidosis
-myoclonic seizures
-intractable seizure
-liver failure
-respiratory deficiency
infantile
0.8n/an/a
114G588D2
A467T2
VPA induced liver failure. 50% mtDNA copy number in muscle.
-liver failure
infantile
2n/an/a
118H754Q2
A467T2
Developmental delay, intractable seizure/refractory, hepatic failure, cerebellar atrophy, liver failure. 87% mtDNA copy number in blood.
-intractable seizure
-cerebellar atrophy
-liver failure
-developmental delay
infantile
2n/an/a
120R597W2
A467T2
Dementia/encephalopathy, ataxia, peripheral neuropathy, ptosis, abnormal muscle histology, abnormal muscle ultrastructure, abnormal respiratory enzyms, large mitochondrial/ proliferation, COX deficiency, ragged red fibers. 100% mtDNA copy number in blood.
-movement disorder (ataxia)
-peripheral neuropathy
-abnormal muscle histology
-abnormal muscle ultrastructure
-ragged red fibers
-ptosis
-encephalopathy
-dementia
adult
26n/an/a
125W748S5
A467T2
Autistic features, headaches/migraines, ataxia, seizures, intractable seizure, optic atrophy, abnormal MRI, dystonia, posterior stroke, abnormal EEG. 101% mtDNA copy number in blood.
-intractable seizure
-movement disorder (ataxia)
-optic atrophy
-stroke
-headache/ migraine
-dystonia
juvenile
18n/an/a
126F749S5
A467T2
Intractable seizure, abrubt onset of seizure. 15% mtDNA copy number in blood.
-intractable seizure
childhood
6n/an/a
127L1113P1
A467T2
Encephalopathy, seizures, pancreatitis, hepatic failure, elevated transaminases, respiratory deficiency/failure, lactic acidosis, mycoplasma infection, pentobarbital induced liver failure. 57% mtDNA copy number in muscle, 78% mtDNA copy number in blood, Complex IV 20%.
-lactic acidosis
-liver failure
-encephalopathy
-pancreatitis
-respiratory deficiency
infantile
1n/an/a
139R597W2
R597W2
Seizures and developing PEO, peripheral neuropathy, and death occurred after VPA treatment. 53% mtDNA copy number in muscle.
-peripheral neuropathy
-PEO
juvenile
18n/an/a
146R852C1
G11D
R627Q5
Dementia/encephalopathy, infantile spasms, cerebral artery occlusion, headache/migraine, stroke, constipation. 74% mtDNA copy number in blood.
-stroke
-headache/ migraine
-encephalopathy
-dementia
juvenile
25n/an/a
152A957V1
G737R5
Deceased at 9 months. 30% mtDNA copy number in muscle, 30% mtDNA copy number in blood, 10% mtDNA copy number in liver.
-no known symptoms
infantile
0.4n/a0.8
153V855L1
G737R5
Hypoglycaemia, liver failure, seizures, developmental delay. 65% mtDNA copy number in muscle, ETC low.
-liver failure
-developmental delay
infantile
0.8n/an/a
158W748S5
W748S5
Ataxia, peripheral neuropathy, exercise intolerance, easy fatigueability, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood.
-movement disorder (ataxia)
-cerebellar atrophy
-peripheral neuropathy
-exercise intolerance
adult
30n/an/a
161T914P1
W748S5
Age 0.8, developmental delay, hypotonia, myoclinic seizures, spasticity, dystonia, exercise intolerance, GI reflux, abnormal EEG, elevated transaminases, increased signal basal ganglia, abnormal MRI, lactic acidosis, high CSF lactate.
-lactic acidosis
-exercise intolerance
-spasticity
-hypotonic
-developmental delay
-GI reflux
-dystonia
infantile
0.8n/an/a
162W748S5
S28C
W748S5
Headaches/migraines, ataxia, peripheral neuropathy, exercise intolerance, ophthalmoporesis/CPEO, abnormal EMG/NCV, ptosis, constipation, pseudo-obstruction, hearing loss, abnormal BAERS. 83% mtDNA copy number in blood.
-movement disorder (ataxia)
-peripheral neuropathy
-exercise intolerance
-ptosis
-PEO
-headache/ migraine
-GI dysmotility
-hearing loss
adult
25n/an/a
163T914P1
W748S5
Seizures. 98% mtDNA copy number in blood.
-no known symptoms
childhood
5n/an/a
165R852H1
W748S5
Alpers. 46% mtDNA copy number in blood.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
3n/an/a
166R953C1
W748S5
Peripheral neuropathy, CPEO, ptosis, COX deficiency, ragged red fibers, headaches/migraines, diarrhoea, lactic acidosis, hypotonia, ataxia, myoclonic seizures, exercise intolerance, muscle weakness, muscle cramps after exercise, optic atrophy, easy fatigability. 61% mtDNA copy number in muscle, 61% mtDNA copy number in blood.
-lactic acidosis
-myoclonic seizures
-movement disorder (ataxia)
-peripheral neuropathy
-optic atrophy
-ragged red fibers
-muscle weakness
-exercise intolerance
-ptosis
-PEO
-hypotonic
-headache/ migraine
adult
51n/an/a
171G848S1
W748S5
Headaches/migrains, seizures, intractable seizure, cortical blindness. 32% mtDNA copy number in blood.
-intractable seizure
-headache/ migraine
-cortical blindness
childhood
7n/an/a
172G888D1
W748S5
Seizures, ptosis, hepatic failure, ketosis, lactic acidosis, organic aciduria/tiglyglycine, elevated pyruvate, microcephaly, abnormal MRI. 33% mtDNA copy number in muscle, 46% mtDNA copy number in blood, ETC low.
-lactic acidosis
-ptosis
-liver failure
-microcephaly
-ketosis
infantile
2n/an/a
173G848S1
W748S5
Hypotonia, myoclonus, or myoclonic seizures, intractable seizure, hepatic failure, abnormal EEG. 38% mtDNA copy number in blood.
-myoclonic seizures
-intractable seizure
-liver failure
-hypotonic
childhood
5n/an/a
178A467T2
F749S5
Authors report N/A. 6% mtDNA copy number in blood.
-no known symptoms
infantile
0.8n/an/a
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
2n/an/a
184P1073L3
G848S1
Hypotonia, FTT, gastro-oesophaeal reflux. 36% mtDNA copy number in muscle, 62% mtDNA copy number in blood.
-failure to thrive
-hypotonic
infantile
2n/an/a
185G848S1
G848S1
Seizures, SIDS/unexplained death, MRS/lactate peak, abnormal MRI, abnormal respiratory enzymes. 7% mtDNA copy number in muscle.
-no known symptoms
childhood
5n/an/a
203A957V1
S933R1
Developmental delay, hypotonia, seizures, muscle weakness elevated transaminases, respiratory deficiency, lactic acidosis, high CSF lactate, elevate pyruvate, high CSF protein, abnormal EEG, abnormal MRI, FTT, hypoglycemia. 37% mtDNA copy number in muscle, 41% mtDNA copy number in blood.
-lactic acidosis
-muscle weakness
-failure to thrive
-hypotonic
-developmental delay
-respiratory deficiency
-hypoglycemia
infantile
0.3n/an/a
206Y951N1
Peripheral neuropathy, elevated 3-methylglutaconic acid.
-peripheral neuropathy
adult
22n/an/a
209Y955C1
CPEO, myopathy.
-myopathy
-PEO
adult
45n/an/a
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
2n/an/a
216R964C1
A962T1
Ataxia, muscle weakness, central hypoventilation. 119% mtDNA copy number in blood.
-movement disorder (ataxia)
-muscle weakness
juvenile
14n/an/a
223R1096C3
R1096C3
Seizures, liver failure.
-liver failure
infantile
1n/an/a
224R1096C3
R1096C3
Developmental delay, seizure, lactic acidosis, elevated transaminases. 50% mtDNA copy number in blood.
-lactic acidosis
-developmental delay
infantile
2n/an/a
225R1096C3
R1096C3
Seizures, dementia/encephalopathy. 56% mtDNA copy number in blood.
-encephalopathy
-dementia
infantile
0.8n/an/a
524G517V2
Y955C1
Peripheral neuropathy, myopathy, ptosis, CPEO, COX deficiency, ragged red fibres
-peripheral neuropathy
-ragged red fibers
-myopathy
-ptosis
-PEO
adult
47n/an/a

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.

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