Sequence information
Variant position: 784 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:
QEQIVSDPFLVVSNTSTFVP
Y EIKVQAVNSQGKGPEPQVTI
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 QEQIVSDPFLVVSNTSTFVPY EIKVQAVNSQGKGPEPQVTI
Mouse RKQTVSDPFLVVSNTSTFVPY EIKVQAVNNQGKGPEPQVTI
Rat KEQTVSDPFLVVSNTSTFVPY EIKVQAVNNQGKGPEPQVTI
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
717 – 810
Fibronectin type-III 2
Glycosylation
777 – 777
N-linked (GlcNAc...) asparagine
Literature citations
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;
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.