UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1194

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 Serine (S) to Leucine (L) at position 1194 (S1194L, p.Ser1194Leu).

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 polar (S) to medium size and hydrophobic (L)

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.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137852522 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1194

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:

GEYRSLESDNEEKAFGSSQP S LNGDIKPLGSDDSLADYGGS

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                         GEYRSLESDNEEKAFGSSQPSLNGDIKPLGSDDSLADYGGS

Mouse                         GEYRSLESDNEEKAFGSSQPSLNGDIKPLGSDDSLADYGGS

Rat                           GEYRSLESDNEEKAFGSSQPSLNGDIKPLGSDDSLADYGGS

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	1144 – 1257	Cytoplasmic
Region	1176 – 1207	Disordered
Modified residue	1178 – 1178	Phosphoserine
Modified residue	1181 – 1181	Phosphoserine; by CaMK2
Modified residue	1194 – 1194	Phosphoserine

Literature citations

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
Fransen E.; Schrander-Stumpel C.; Vits L.; Coucke P.; van Camp G.; Willems P.J.;
Hum. Mol. Genet. 3:2255-2256(1994)
Cited for: VARIANT HSAS/MASA LEU-1194;

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.Ser1194Leu