POLG Pathogenicity Prediction Server
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9 patient data entries collated from reference Sarzi et al, 2007.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
11T251I
P587L2
C224Y4
Alpers, trunk hypotonia, seizures at 4 months, RC deficiency in liver. 28% mtDNA copy number in liver.
-liver dysfunction
-hypotonic
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a0.3n/a
75A467T2
L428P1
Alpers, cerebellar ataxia at age 2, seizures at age 3, RC deficiency in liver, hepatocellular insufficiency after valproate treatment at age 3.6, death at age 3.8. 8% mtDNA copy number in liver.
-cerebellar ataxia
-movement disorder (ataxia)
-liver dysfunction
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a23.8
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
n/a0.51
402A467T2
W748S5
K561M2
Feeding difficulties 2 days after birth and trunk hypotonia, dysmorphy, hypotonia, coloboma, heart failure at 2 months, liver insufficiency at 4 months. Liver and muscle mtDNA depletion.
-liver failure
-hypotonic
infantile
n/a0.0010.5
404W748S5
E1143G
Onset with walking difficulties, seizures at 2.5 years, hepatocellular insufficiency after valproate treatment, alpers syndrome, Liver mtDNA depletion.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a23
405A143V1
Onset with seizures at 6 months, alpers syndrome. Muscle mtDNA depletion.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a0.52
610Frameshift:
nt2842_2843insAI948fsX968
W748S5
E1143G
Myoclonus, epilepsy, Psychomotor retardation, Alpers syndrome, steatosis
-myoclonic seizures
-epilepsy
-retardation
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
n/a0.25n/a
611Splice site
mutation:
IVS20nt+2T>C
A467T2
Seizures, Alpers syndrome, Jaundice at 9 months and liver enlargement.
-jaundice
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a0.66n/a
612Frameshift:
c.975_976insCT326fsX387
A467T2
Myoclonus epilepsy, Epilepsy, Alpers syndrome, steatosis, death at 3 years
-myoclonic seizures
-epilepsy
-Alpers syndrome
-encephalopathy
-developmental delay
childhood
n/a33

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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