UniProtKB/SwissProt variant VAR

Variant information

Variant position:

691

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 Alanine (A) to Aspartate (D) at position 691 (A691D, p.Ala691Asp).

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 small size and hydrophobic (A) to medium size and acidic (D)

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 MASA; associated with callosal agenesis.

Any additional useful information about the variant.

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                         NQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPE

Mouse                         NQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSESVVTPE

Rat                           NQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPE

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

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P32004: Variant p.Ala691Asp