Variant position: 309 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 TYQNHNKTLQLLKVGEEDDG EYRCLAENSLGSARHAYYVTV
Mouse IYQNHNKTLQLLNVGEEDDG EYTCLAENSLGSARHAYYVTV
Rat IYQNHNKTLQLLNVGEEDDG EYTCLAENSLGSARHAYYVTV
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
240 – 328 Ig-like C2-type 3
294 – 294 N-linked (GlcNAc...) asparagine
264 – 312
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
Jouet M.; Moncla A.; Paterson J.; McKeown C.; Fryer A.; Carpenter N.; Holmberg E.; Wadelius C.; Kenwrick S.;
Am. J. Hum. Genet. 56:1304-1314(1995)
Cited for: VARIANT HSAS/MASA LEU-941; VARIANT MASA LYS-309; VARIANTS HSAS SER-9; SER-121; PHE-768 AND CYS-1070;
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;
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;
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