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University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
Database
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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.2278C>T
p.Arg760X
Exon 18
Nonsense
Disease-causing
n.a.
n.a.
n.a.
n.a.
Fn 2
Patients
Family
# Affected relatives
Clinical features
Remarks
Reference
1
2
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
Died at the age og 6 yrs
Vos et al. (2010)
References
Year
Author
Title
Journal
Volume
Pages
Weblink
2010
Vos et al.
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
J.Med.Genet
47(3)
169-175
19846429