POLG Pathogenicity Prediction Server
Home Query References Browse Contact

3 patient data entries in database for mutations A467T and A957P.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
110A957P1
A467T2
Onset at 8 months with FTT, dementia, hypotonia, seizures, hepatopathy, aplasia cutis, delayed myelinisation. Death at 17 months.
-delayed myelination
-failure to thrive
-hypotonic
-dementia
infantile
0.6n/a1.5de Vries et al, 2007;

[view data]

212A467T2
A957P1
Epilepsy, liver failure, occipital strokes, and growth retardation, death at age 1.
-epilepsy
-liver failure
-growth retardation
-retardation
-occipital strokes
infantile
n/an/a1Blok et al, 2009;

[view data]

704A957P1
A467T2
mild motor retardation was first noted at 6 months. At the age of 16 months, he was admitted to a local hospital for status epilepticus. At 18 months, generalized brain atrophy. epilepsia partialis continua, which was partially controlled by carbamazepine, later switched to oxcarbazepine. Elevated blood lactate. Alpers. He died at 2 years of age after severe complications from liver failure.
-status epilepticus
-epilepsia partialis
-liver failure
-retardation
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
0.5n/a2Ferrari et al, 2005;

[view data]

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: 3
Avg age of onset in displayed cases: 0.7
Std dev in onset in displayed cases: 0.2

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
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: