Variant position: 264 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1257 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FPTNSSSHLVALQGQPLVLE CIAEGFPTPTIKWLRPSGPMP
Mouse FPTNSSSRLVALQGQSLILE CIAEGFPTPTIKWLHPSDPMP
Rat FPTNSSSHLVALQGQSLILE CIAEGFPTPTIKWLHPSDPMP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
20 – 1257 Neural cell adhesion molecule L1
20 – 1120 Extracellular
240 – 328 Ig-like C2-type 3
247 – 247 N-linked (GlcNAc...) asparagine
264 – 312
A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS).
Jouet M.; Rosenthal A.; Macfarlane J.; Kenwrick S.; Donnai D.;
Nat. Genet. 4:331-331(1993)
Cited for: VARIANT HSAS TYR-264;
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
Fransen E.; Lemmon V.; van Camp G.; Vits L.; Coucke P.; Willems P.J.;
Eur. J. Hum. Genet. 3:273-284(1995)
Cited for: VARIANT HSAS/MASA LEU-1194; VARIANTS HSAS GLN-184; TYR-264 AND ARG-452; VARIANTS MASA GLN-210 AND ASN-598;
The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo.
Ruenker A.E.; Bartsch U.; Nave K.A.; Schachner M.;
J. Neurosci. 23:277-286(2003)
Cited for: CHARACTERIZATION OF VARIANT HSAS TYR-264; SUBCELLULAR LOCATION; GLYCOSYLATION;
Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.
Kudumala S.; Freund J.; Hortsch M.; Godenschwege T.A.;
PLoS ONE 8:E76974-E76974(2013)
Cited for: CHARACTERIZATION OF VARIANT VAL-120; CHARACTERIZATION OF VARIANTS MASA GLN-210 AND LYS-309; CHARACTERIZATION OF VARIANTS HSAS GLN-184; TYR-264 AND CYS-1070; MUTAGENESIS OF 1147-LYS--VAL-1153;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.