UniProtKB/SwissProt variant VAR

Variant information

Variant position:

452

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 452 (G452R, p.Gly452Arg).

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; severe.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137852520 [ dbSNP | Ensembl ]

Sequence information

Variant position:

452

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:

DNQTYMAVQGSTAYLLCKAF G APVPSVQWLDEDGTTVLQDE

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                         DNQTYMAVQGSTAYLLCKAFGAPVPSVQWLDEDGTTVLQDE

Mouse                         DNQTYMAVEGSTAYLLCKAFGAPVPSVQWLDEEGTTVLQDE

Rat                           DNQTYMAVEGSTAYLLCKAFGAPVPSVQWLDEEGTTVLQDE

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	425 – 507	Ig-like C2-type 5
Glycosylation	433 – 433	N-linked (GlcNAc...) asparagine
Disulfide bond	448 – 497

Literature citations

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
Jouet M.; Rosenthal A.; Armstrong G.; Macfarlane J.; Stevenson R.; Paterson J.; Metzenberg A.; Ionasescu V.; Temple K.; Kenwrick S.;
Nat. Genet. 7:402-407(1994)
Cited for: INVOLVEMENT IN MASA; INVOLVEMENT IN HSAS; VARIANTS HSAS GLN-184 AND ARG-452; VARIANT MASA GLN-210;

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
Fransen E.; Lemmon V.; van Camp G.; Vits L.; Coucke P.; Willems P.J.;
Eur. J. Hum. Genet. 3:273-284(1995)
Cited for: VARIANT HSAS/MASA LEU-1194; VARIANTS HSAS GLN-184; TYR-264 AND ARG-452; VARIANTS MASA GLN-210 AND ASN-598;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P32004: Variant p.Gly452Arg