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University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
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Mutations
Protein domains
References
Mutation Details
DNA change
Protein change
Exon/intron
Type
Reported classification
Bateman
SIFT
PolyPhen
Conserved
Protein domain
Remarks
LOVD ID
c.870C>A
p.Tyr290X
Exon 8
Nonsense
Disease-causing
n.a.
n.a.
n.a.
n.a.
Ig 3
De novo in family 2?
Patients
Family
# Affected relatives
Clinical features
Remarks
Reference
1
>1
Hydrocephalus, Spastic paraplegia
> 8 yrs
Kanemura et al (2006)
2
1
Hydrocephalus, Spastic paraplegia
Kanemura et al (2006)
References
Year
Author
Title
Journal
Volume
Pages
Weblink
2006
Kanemura et al
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus
J Neurosurg: Pediatrics
105
403-412
17328266