Sequence information
Variant position: 219 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:
LTSDNHSDYICHAHFPGTRT
I IQKEPIDLRVKATNSMIDRK
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 LTSDNHSDYICHAHFPGTRTI IQKEPIDLRVKATNSMIDRK
Mouse LTSDNHSDYICNAHFPGTRTI IQKEPIDLRVKPTNSMIDRK
Rat LTSDNHSDYICNAHFPGTRTI IQKEPIDLRVKPTNSMIDRK
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
Literature citations
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Saugier-Veber P.; Martin C.; le Meur N.; Lyonnet S.; Munnich A.; David A.; Henocq A.; Heron D.; Jonveaux P.; Odent S.; Manouvrier S.; Moncla A.; Morichon N.; Philip N.; Satge D.; Tosi M.; Frebourg T.;
Hum. Mutat. 12:259-266(1998)
Cited for: VARIANTS HSAS/MASA ARG-335 AND CYS-473; VARIANTS HSAS THR-219; CYS-386 AND LEU-1224;
L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.
Tagliavacca L.; Colombo F.; Racchetti G.; Meldolesi J.;
J. Neurochem. 124:397-409(2013)
Cited for: CHARACTERIZATION OF VARIANTS MASA GLN-210 AND LYS-309; CHARACTERIZATION OF VARIANTS HSAS THR-219 AND CYS-264; CHARACTERIZATION OF VARIANT HSAS/MASA LEU-941; SUBCELLULAR LOCATION;
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.