Variant position: 240 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 IQKEPIDLRVKATNSMIDRK PRLLFPTNSSSHLVALQGQPL
Mouse IQKEPIDLRVKPTNSMIDRK PRLLFPTNSSSRLVALQGQSL
Rat IQKEPIDLRVKPTNSMIDRK PRLLFPTNSSSHLVALQGQSL
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
247 – 247 N-linked (GlcNAc...) asparagine
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
Gu S.-M.; Orth U.; Veske A.; Enders H.; Kluender K.; Schloesser M.; Engel W.; Schwinger E.; Gal A.;
J. Med. Genet. 33:103-106(1996)
Cited for: VARIANTS HSAS CYS-194 AND LEU-240;
Expanding the phenotypic spectrum of L1CAM-associated disease.
Basel-Vanagaite L.; Straussberg R.; Friez M.J.; Inbar D.; Korenreich L.; Shohat M.; Schwartz C.E.;
Clin. Genet. 69:414-419(2006)
Cited for: VARIANT ACCPX LEU-240;
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