UniProtKB/Swiss-Prot P32004: Variant p.Val768Ile

Neural cell adhesion molecule L1
Gene: L1CAM
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Variant information Variant position:

768 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Valine (V) to Isoleucine (I) at position 768 (V768I, p.Val768Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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:

Decreased cell-cell adhesion; no effect on subcellular localization; no effect on neurite outgrowth. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs36021462 [ dbSNP | Ensembl ]

Sequence information Variant position:

768 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:

VQYRVQWRPQGTRGPWQEQI V SDPFLVVSNTSTFVPYEIKV 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                         VQYRVQWRPQGTRGPWQEQIVSDPFLVVSNTSTFVPYEIKV

Mouse                         IQYRVQWRPQGKQETWRKQTVSDPFLVVSNTSTFVPYEIKV

Rat                           IQYRVQWRPLGKQETWKEQTVSDPFLVVSNTSTFVPYEIKV

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	717 – 810	Fibronectin type-III 2
Glycosylation	777 – 777	N-linked (GlcNAc...) asparagine

Literature citations
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
Marx M.; Diestel S.; Bozon M.; Keglowich L.; Drouot N.; Bouche E.; Frebourg T.; Minz M.; Saugier-Veber P.; Castellani V.; Schaefer M.K.;
Neurogenetics 13:49-59(2012)
Cited for: INVOLVEMENT IN L1 SYNDROME; VARIANTS CYS-635 AND ILE-768; GLYCOSYLATION; Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.
Gu S.-M.; Orth U.; Zankl M.; Schroeder J.; Gal A.;
Am. J. Med. Genet. 71:336-340(1997)
Cited for: VARIANT MASA PRO-482; VARIANTS HYCX SER-526 DEL; PRO-542 AND THR-741; VARIANT HYCX/MASA MET-752; VARIANT ILE-768;

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.