POLG Pathogenicity Prediction Server
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2 patient data entries in database for mutations T251I and K1191R.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
29K1191R1
T251I
P587L2
Developmental delay/dementia, liver dysfunction, lactic acidosis, fatigue, pancreatitis, cyclic vomiting.
-lactic acidosis
-liver dysfunction
-developmental delay
-dementia
-vomiting
-cyclic vomiting
-pancreatitis
infantile
1n/an/aWong et al, 2008;

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284K1191R1
T251I
P587L2
Presented with feeding difficulties and hypotonia, At 4.5 months of age the patient contracted an influenza A infection. Concurrently she experienced hepatomegaly associated with severe hypoglycemia, Abnormalities in liver synthetic function, elevations in liver hepatocellular enzymes, elevated cerebrospinal fluid (CSF) protein, severely reduced mtDNA (3%) in liver. liver failure. She showed signs of ongoing respiratory difficulty, pancreatitis, and renal tubulopathy
-liver failure
-hypotonic
-pancreatitis
-hepatomegaly
-hypoglycemia
-renal tubulopathy
infantile
0.1660.4160.458Lutz 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: 2
Avg age of onset in displayed cases: 0.6
Std dev in onset in displayed cases: 0.4

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.
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