Variant position: 698 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 KLSPYVHYTFRVTAINKYGP GEPSPVSETVVTPEAAPEKNP
Mouse KLSPYVHYTFRVTAINKYGP GEPSPVSESVVTPEAAPEKNP
Rat KLSPYVHYTFRVTAINKYGP GEPSPVSETVVTPEAAPEKNP
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
698 – 725 Disordered
Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.
Du Y.-Z.; Srivastava A.K.; Schwartz C.E.;
Hum. Mutat. 11:222-230(1998)
Cited for: VARIANT HSAS/MASA ARG-698; VARIANT MASA ASP-691; VARIANT HSAS PRO-935;
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.
Michaelis R.C.; Du Y.-Z.; Schwartz C.E.;
J. Med. Genet. 35:901-904(1998)
Cited for: VARIANTS MASA CYS-674 AND ASP-691; VARIANT HSAS/MASA ARG-698;
Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene.
Fernandez R.M.; Nunez-Torres R.; Garcia-Diaz L.; de Agustin J.C.; Antinolo G.; Borrego S.;
Am. J. Med. Genet. A 158:816-820(2012)
Cited for: INVOLVEMENT OF VARIANT HSAS/MASA ARG-698 IN HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE;
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.