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7 patient data entries in database for mutations W748S and T914P.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
160T914P1
W748S5
E1143G
developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3.
-status epilepticus
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-vomiting
infantile
2.53n/aIsohanni et al, 2011;

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161T914P1
W748S5
Age 0.8, developmental delay, hypotonia, myoclinic seizures, spasticity, dystonia, exercise intolerance, GI reflux, abnormal EEG, elevated transaminases, increased signal basal ganglia, abnormal MRI, lactic acidosis, high CSF lactate.
-lactic acidosis
-exercise intolerance
-spasticity
-hypotonic
-developmental delay
-GI reflux
-dystonia
infantile
n/a0.8n/aTang et al, 2011;

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163T914P1
W748S5
Seizures. 98% mtDNA copy number in blood.
-no known symptoms
childhood
n/a5n/aTang et al, 2011;

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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
4n/an/aAshley et al, 2008;

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339T914P1
W748S5
Presented with generalized epilepsy and mild long-standing learning difficulties requiring special education, developed liver failure after taking valproate, migraines, right-sided epilepsia partialis continua, myoclonic arm jerks, a pancerebellar syndrome, and progressive cognitive impairment. mild external ophthalmoplegia, saccadic pursuit, writhing tongue movements, dysarthria, bilateral dysdiadochokinesis and dysmetria, mild sensory axonal peripheral neuropathy, ptosis
-epilepsy
-epilepsia partialis
-peripheral neuropathy
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-liver failure
-headache/ migraine
-dysarthria
juvenile
15n/an/aHinnell et al, 2012;

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440T914P1
W748S5
Refractory generalized epilepsy with status epilepticus, hepatic cholestasis and cytolysis, proximal tubulopathy, hyperintensity of thalamus. mtDNA depletion.
-status epilepticus
-epilepsy
-cholestasis
childhood
6n/an/aRouzier et al, 2013;

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687T914P1
W748S5
mtDNA depletion in muscle, Epilepsy, hepatopathy, movement disorder
-epilepsy
-movement disorder (ataxia)
infantile
1.1n/an/aAshley et al, 2008;

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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: 7
Avg age of onset in displayed cases: 4.9
Std dev in onset in displayed cases: 4.5

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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