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1 patient data entry in database for mutations G737R and V855L.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
153V855L1
G737R5
Hypoglycaemia, liver failure, seizures, developmental delay. 65% mtDNA copy number in muscle, ETC low.
-liver failure
-developmental delay
infantile
n/a0.8n/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:
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Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
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