POLG Pathogenicity Prediction Server
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8 patient data entries in database for mutation D1184N.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
14D1184N1
R227W4
Severe childhood multi-system disorder- age of onset 4-7 months, age of death 26-43 months. Initial symptom was failure to thrive. Other symptoms included severe retardation, GI problems and hypotonia. Also hearing loss and elevated lactate in serum and CSF. Ragged red fibers were observed indicating mtDNA depletion
-ragged red fibers
-failure to thrive
-hypotonic
-retardation
-GI problems
-hearing loss
infantile
0.5n/a2de Vries et al, 2007;

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131D1184N1
N468D2
PEO and tetraparesis, serum CK level elevated.
-PEO
adult
32n/an/aGonzalez-Vioque et al, 2006;

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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
0.5n/a1Sarzi et al, 2007;

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221D1184N1
S1095R3
Failure to thrive, feeding problems, intestinal pseudo-obstruction, congenital deafness, demyelinating sensomotor neurpathy, impaired liver function, death at age 3.
-demyelinating neuropathy
-failure to thrive
-GI dysmotility
infantile
n/an/a3Blok et al, 2009;

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421D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, ataxia, epilepsy, fatty liver
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
childhood
9n/a33Amiot et al, 2009;

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422D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, fatty liver
-peripheral neuropathy
-PEO
childhood
9n/a30Amiot et al, 2009;

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436D1184N1
CPEO, axonal sensory neuronopathy, parkinsonism. late-onset CPEO with a sensory neuropathy and a Parkinsonian syndrome.
-axonal sensorimotor polyneuropathy
-PEO
-parkinson's disease
adult
70n/an/aRouzier et al, 2013;

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437D1184N1
CPEO, axonal sensory neuronopathy.
-axonal sensorimotor polyneuropathy
-PEO
adult
75n/an/aRouzier et al, 2013;

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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: 8
Avg age of onset in displayed cases: 24.9
Std dev in onset in displayed cases: 29.1

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
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