Variant position: 1036 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 GISDFGNISATAGENYSVVS WVPKEGQCNFRFHILFKALGE
Mouse GKPDFGNISATAGENYSVVS WVPRKGQCNFRFHILFKALPE
Rat GKPDFGNISVTAGENYSVVS WVPREGQCNFRFHILFKALPE
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
1016 – 1115 Fibronectin type-III 5
1022 – 1022 N-linked (GlcNAc...) asparagine
1030 – 1030 N-linked (GlcNAc...) asparagine
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;
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