Variant position: 635 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 VPRLVLSDLHLLTQSQVRVS WSPAEDHNAPIEKYDIEFEDK
Mouse VPHLELSDRHLLKQSQVHLS WSPAEDHNSPIEKYDIEFEDK
Rat VPHLELSDRHLLKQSQVHLS WSPAEDHNSPIEKYDIEFEDK
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
615 – 712 Fibronectin type-III 1
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
Marx M.; Diestel S.; Bozon M.; Keglowich L.; Drouot N.; Bouche E.; Frebourg T.; Minz M.; Saugier-Veber P.; Castellani V.; Schaefer M.K.;
Cited for: INVOLVEMENT IN L1 SYNDROME; VARIANTS CYS-635 AND ILE-768; GLYCOSYLATION;
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