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2 patient data entries in database for mutations G848S and R627Q.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
145G848S1
R627Q5
vomiting, headache, sensory ataxia, areflexia, focal seizures, status epilepticus. MELAS.
-status epilepticus
-focal seizures
-movement disorder (ataxia)
-sensory ataxia
-headache/ migraine
-vomiting
-areflexia
adult
21n/an/aDeschauer et al, 2007;

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147G848S1
R627Q5
At 35 years of age, dysarthria/dysphagia, sensory neuropathy, PEO, distal muscle wasting, phobia anxiety disorder, mild cerebellar atrophy (MRI)
-cerebellar atrophy
-PEO
-dysphagia
-dysarthria
-distal muscle wasting
adult
2935n/aSchulte 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.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 25.0
Std dev in onset in displayed cases: 4.0

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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