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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.2065G>T
p.Val689Phe
Exon 16
Missense
Disease-causing
Key residue
Not tolerated
Probably damaging
Highly
Fn 1
Patients
Family
# Affected relatives
Clinical features
Remarks
Reference
1
2
Adducted thumbs, Hydrocephalus, Spastic paraplegia
> 1yr; 2/2
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