UniProtKB/Swiss-Prot P32004: Variant p.Gly1239Glu

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

1239 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 Glycine (G) to Glutamate (E) at position 1239 (G1239E, p.Gly1239Glu). 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 medium size and acidic (E) 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

Sequence information Variant position:

1239 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:

FNEDGSFIGQYSGKKEKEAA G GNDSSGATSPINPAVALE 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                         FNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE

Mouse                         FNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE

Rat                           FNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE

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	1226 – 1257	Disordered
Modified residue	1243 – 1243	Phosphoserine
Modified residue	1244 – 1244	Phosphoserine
Modified residue	1248 – 1248	Phosphoserine

Literature citations
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Finckh U.; Schroeder J.; Ressler B.; Veske A.; Gal A.;
Am. J. Med. Genet. 92:40-46(2000)
Cited for: VARIANTS HYCX TRP-184; CYS-335; ILE-408; ASP-421; TYR-497; THR-691 AND PRO-751; VARIANTS ASN-30; TRP-739 AND GLU-1239; VARIANT HYCX/MASA ARG-370;

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.