POLG Pathogenicity Prediction Server
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24 patient data entries collated from reference Ashley et al, 2008.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
19T251I
P587L2
R232G4
Alpers, epilepsy and hepatopathy, onset 5 months of age.
-epilepsy
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
n/a0.5n/a
72A467T2
R417T1
onset at 2 years with encephalopathy no hepatopathy.
-encephalopathy
infantile
n/a2n/a
73A467T2
C418R1
Onset at 3 years of age, encephalopathy presenting with epilepsy and movement disorder (ataxia).
-epilepsy
-movement disorder (ataxia)
-encephalopathy
childhood
n/a3n/a
106L966R1
A467T2
Reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy.
-epilepsy
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
n/a4n/a
135H569Q2
H569Q2
Onset 15 years presenting encephalopathy, no epilepsy or hepatopathy. 78% mtDNA copy number in muscle.
-epilepsy
-encephalopathy
juvenile
n/a15n/a
137W748S5
P587L2
P589L2
Encephalopathy onset 16 years of age, presented with epilepsy.
-epilepsy
-encephalopathy
juvenile
n/a16n/a
142T914P1
R627W5
reported as Alpers, onset at birth, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 5% mtDNA copy number in liver, 54% mtDNA copy number in muscle.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
infantile
n/a0.01n/a
156W748S5
W748S5
reported as Alpers, onset at 16 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 108% mtDNA copy number in muscle.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
juvenile
n/a16n/a
174G848S1
W748S5
Reported as Alpers, onset at 6 years, presenting encephalopathy with epilepsy, hepatopathy absent, and movement disorder (ataxia).
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
n/a6n/a
187W748S5
R852C1
G11D
reported as Alpers, onset at 1 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 32% mtDNA copy number in liver.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
infantile
n/a1n/a
188A467T2
R852C1
G11D
reported as Alpers, onset at 2 years, presenting encephalopathy with epilepsy, hepatopathy. 22% mtDNA copy number in muscle.
-epilepsy
-encephalopathy
-Alpers syndrome
-developmental delay
infantile
n/a2.25n/a
197W748S5
T914P1
reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 15% mtDNA copy number in liver.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
n/a4n/a
198A467T2
T914P1
reported as Alpers, onset at 7 months, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 39% mtDNA copy number in muscle.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
infantile
n/a0.58n/a
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
n/a1n/a
235T851A1
H277L3
Onset at 6 months of age, epilepsy, hepatopathy. 4% mtDNA copy number in liver, 32% mtDNA copy number in muscle.
-epilepsy
infantile
n/a0.5n/a
648Nonsense
mutation:
R374X
A467T2
Epilepsy, hepatopathy, movement disorder (present but not prominent)
-epilepsy
-movement disorder (ataxia)
infantile
n/a0.33n/a
649Indel:
W347_L365del
A467T2
Epilepsy, hepatopathy, movement disorder (present but not prominent)
-epilepsy
-movement disorder (ataxia)
infantile
n/a0.58n/a
683R1096C3
R1096C3
Epilepsy, Cellular depletion, Hepatopathy
-epilepsy
infantile
n/a0.42n/a
684Nonsense
mutation:
E873X
A467T2
mtDNA depletion (30% in muscle), epilepsy, hepatopathy, movement disorder
-epilepsy
-movement disorder (ataxia)
infantile
n/a1.5n/a
685L304R3
L304R3
Relatively Mild phenotype
-no known symptoms
childhood
n/a10n/a
687T914P1
W748S5
mtDNA depletion in muscle, Epilepsy, hepatopathy, movement disorder
-epilepsy
-movement disorder (ataxia)
infantile
n/a1.1n/a
688T914P1
A467T2
Hepatopathy
-no known symptoms
juvenile
n/a15n/a
689G848S1
A467T2
Hepatopathy, Epilepsy, Hepatopathy,
-epilepsy
infantile
n/a1.5n/a
690A467T2
A467T2
Epilepsy, ataxia
-epilepsy
-movement disorder (ataxia)
juvenile
n/a16n/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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