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UniProtKB/Swiss-Prot O43602: Variant p.Phe243Leu

Neuronal migration protein doublecortin
Gene: DCX
Chromosomal location: Xq22.3-q23
Variant information

Variant position:  243
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Leucine (L) at position 243 (F243L, p.Phe243Leu).
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 large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Involvement in disease:  Lissencephaly, X-linked 1 (LISX1) [MIM:300067]: A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'. {ECO:0000269|PubMed:11468322, ECO:0000269|PubMed:12552055, ECO:0000269|PubMed:27292316, ECO:0000269|PubMed:9489699, ECO:0000269|PubMed:9489700, ECO:0000269|PubMed:9668176, ECO:0000269|PubMed:9817918}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In LISX1.
Any additional useful information about the variant.



Sequence information

Variant position:  243
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  365
The length of the canonical sequence.

Location on the sequence:   GVVKKLYTLDGKQVTCLHDF  F GDDDVFIACGPEKFRYAQDD
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                         GVVKKLY-TLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDD

Mouse                         GVVKKLY-TLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQD

Rat                           GVVKKLY-TLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQD

Slime mold                    GPVRKLYLASSGKLVKTMEEII-DGEYYVCAGGETL-----

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.

TypePositionsDescription
Chain 1 – 365 Neuronal migration protein doublecortin
Domain 180 – 263 Doublecortin 2
Beta strand 243 – 245


Literature citations

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.
Aigner L.; Uyanik G.; Couillard-Despres S.; Ploetz S.; Wolff G.; Morris-Rosendahl D.; Martin P.; Eckel U.; Spranger S.; Otte J.; Woerle H.; Holthausen H.; Apheshiotis N.; Fluegel D.; Winkler J.;
Neurology 60:329-332(2003)
Cited for: VARIANTS LISX1 ILE-42; ASP-60; SER-71 AND LEU-243;

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.