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UniProtKB/Swiss-Prot P32004: Variant p.Gly698Arg

Neural cell adhesion molecule L1
Gene: L1CAM
Variant information

Variant position:  698
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glycine (G) to Arginine (R) at position 698 (G698R, p.Gly698Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In HSAS and MASA; associated with callosal agenesis; also found in a patient affected by hydrocephalus with Hirschsprung disease.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   KLSPYVHYTFRVTAINKYGP  G EPSPVSETVVTPEAAPEKNP
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                         KLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNP

Mouse                         KLSPYVHYTFRVTAINKYGPGEPSPVSESVVTPEAAPEKNP

Rat                           KLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNP

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.

TypePositionsDescription
Chain 20 – 1257 Neural cell adhesion molecule L1
Topological domain 20 – 1120 Extracellular
Domain 615 – 712 Fibronectin type-III 1
Region 698 – 725 Disordered


Literature citations

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;

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.