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1 patient data entry in database for mutations S305R and P1073L.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
660P1073L3
S305R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.75n/a2Baruffini 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.

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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