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1 patient data entry in database for mutations R807C and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
94R807C3
A467T2
Encephalopathy/dementia, liver failure, cholestasis, lactic acidosis, altered mental status. 47% mtDNA copy number in muscle, 8% mtDNA copy number in liver, ETC low.
-lactic acidosis
-liver failure
-encephalopathy
-dementia
-altered mental status
-cholestasis
infantile
n/a1n/aTang et al, 2011;

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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.

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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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