Sequence information
Variant position: 691 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:
NQTSTTLKLSPYVHYTFRVT
A INKYGPGEPSPVSETVVTPE
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 NQTSTTLKLSPYVHYTFRVTA INKYGPGEPSPVSETVVTPE
Mouse NQTSTTLKLSPYVHYTFRVTA INKYGPGEPSPVSESVVTPE
Rat NQTSTTLKLSPYVHYTFRVTA INKYGPGEPSPVSETVVTPE
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
615 – 712
Fibronectin type-III 1
Glycosylation
671 – 671
N-linked (GlcNAc...) asparagine
Literature citations
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Finckh U.; Schroeder J.; Ressler B.; Veske A.; Gal A.;
Am. J. Med. Genet. 92:40-46(2000)
Cited for: VARIANTS HSAS TRP-184; CYS-335; ILE-408; ASP-421; TYR-497; THR-691 AND PRO-751; VARIANTS ASN-30; TRP-739 AND GLU-1239; VARIANT HSAS/MASA ARG-370;
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.