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2 patient data entries in database for mutations R227W and G848S.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
15G848S1
R227W4
Born with severe hypotonia, general muscle weakness, hearing loss, GI problems, mild cerbral atrophy, mtDNA depletion in muscle and GI, death via respiratory failure at 20 days.
-muscle weakness
-hypotonic
-GI problems
-respiratory deficiency
-hearing loss
infantile
0.01n/a0.1Giordano et al, 2009;

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336R227W4
G848S1
Complex I deficiency, Hypotonia, lethargy, respiratory distress, metabolic acidosis, FTT, encephalopathy
-failure to thrive
-hypotonic
-encephalopathy
infantile
0.010.06n/aCalvo et al, 2012;

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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: 2
Avg age of onset in displayed cases: 0.0
Std dev in onset in displayed cases: 0.0

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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