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1 patient data entry in database for mutations P587L and E1136K.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
31E1136K1
T251I
P587L2
Vomiting, FTT, hypotonic, lactic acidemia, hypoglycemia, bilateral dense cataracts, hepatomegaly, jaundice, septicemia. infantile hepatocerebral mtDNA depletion. Mother with E1136K allele reported as asymptomatic. Father with T251I/P587L allele reported as asymptomatic.
-lactic acidosis
-hepatocerebral
-jaundice
-failure to thrive
-hypotonic
-vomiting
-hepatomegaly
-hypoglycemia
-septicemia
infantile
0.01n/a0.5Taanman 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.

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Mutations Entry IDs Clusters Reference Residue range
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Use "PNF" for non-missense mutations.
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