Sequence information
Variant position: 184 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:
AEPLRIYWMNSKILHIKQDE
R VTMGQNGNLYFANVLTSDNH
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 AEPLRIYWMNSKILHIKQDER VTMGQNGNLYFANVLTSDNH
Mouse AAPPRIYWMNSKIFDIKQDER VSMGQNGDLYFANVLTSDNH
Rat AAPLRIYWMNSKILHIKQDER VSMGQNGDLYFANVLTSDNH
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
Chain
20 – 1257
Neural cell adhesion molecule L1
Topological domain
20 – 1120
Extracellular
Domain
139 – 226
Ig-like C2-type 2
Glycosylation
203 – 203
N-linked (GlcNAc...) asparagine
Disulfide bond
158 – 209
Literature citations
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
Vos Y.J.; de Walle H.E.; Bos K.K.; Stegeman J.A.; Ten Berge A.M.; Bruining M.; van Maarle M.C.; Elting M.W.; den Hollander N.S.; Hamel B.; Fortuna A.M.; Sunde L.E.; Stolte-Dijkstra I.; Schrander-Stumpel C.T.; Hofstra R.M.;
J. Med. Genet. 47:169-175(2010)
Cited for: INVOLVEMENT IN L1 SYNDROME; VARIANTS 26-TYR--GLU-1257 DEL; ASN-37; MET-38; 66-GLN--GLU-1257 DEL; 109-GLN--GLU-1257 DEL; 133-GLU--GLU-1257 DEL; 138-TRP--GLU-1257 DEL; ILE-172; GLY-184; 187-MET--VAL-198 DEL; ASP-254; ARG-276; PRO-313; 366-TRP--GLU-1257 DEL; LYS-369; 423-GLN--GLU-1257 DEL; ARG-480; ASN-516; TYR-516; HIS-525; MET-627; PRO-645; 662-TRP--GLU-1257 DEL; SER-714; ARG-754; 760-ARG--GLU-1257 DEL; 789-GLN--GLU-1257 DEL; 811-TYR--GLU-1257 DEL; 891-TYR--GLU-1257 DEL; 901-ARG--GLU-1257 DEL; 1064-SER--GLU-1257 DEL; ASN-1071 DEL AND GLN-1080; VARIANTS HSAS/MASA SER-179; ARG-335 AND MET-752; VARIANT MASA TYR-202; VARIANTS HSAS GLN-184 AND PRO-415;
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
Jouet M.; Rosenthal A.; Armstrong G.; Macfarlane J.; Stevenson R.; Paterson J.; Metzenberg A.; Ionasescu V.; Temple K.; Kenwrick S.;
Nat. Genet. 7:402-407(1994)
Cited for: INVOLVEMENT IN MASA; INVOLVEMENT IN HSAS; VARIANTS HSAS GLN-184 AND ARG-452; VARIANT MASA GLN-210;
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;
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
Macfarlane J.R.; Du J.-S.; Pepys M.E.; Ramsden S.; Donnai D.; Charlton R.; Garrett C.; Tolmie J.; Yates J.R.W.; Berry C.; Goudie D.; Moncla A.; Lunt P.; Hodgson S.; Jouet M.; Kenwrick S.;
Hum. Mutat. 9:512-518(1997)
Cited for: VARIANTS HSAS GLN-184; 439-VAL--THR-443 DEL; CYS-784 AND 936-LEU--LEU-948 DEL;
L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms.
Schaefer M.K.; Nam Y.C.; Moumen A.; Keglowich L.; Bouche E.; Kueffner M.; Bock H.H.; Rathjen F.G.; Raoul C.; Frotscher M.;
Neurobiol. Dis. 40:222-237(2010)
Cited for: CHARACTERIZATION OF VARIANTS HSAS GLN-184 AND LEU-1036; FUNCTION; SUBCELLULAR LOCATION;
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;
Disclaimer:
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.