Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43602: Variant p.Arg78Leu

Neuronal migration protein doublecortin
Gene: DCX
Feedback?
Variant information Variant position: help 78 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Leucine (L) at position 78 (R78L, p.Arg78Leu). 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: help Change from large size and basic (R) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In SBHX. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 78 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 365 The length of the canonical sequence.
Location on the sequence: help YRNGDRYFKGIVYAVSSDRF R SFDALLADLTRSLSDNINLP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         YRNGDRYF-KGIVYAVSSDRFRSFDALLADLTRSLSDNINLP

Mouse                         YRNGDRYF-KGIVYAVSSDRFRSFDALLADLTRSLSDNINL

Rat                           YRNGDRYF-KGIVYAVSSDRFRSFDALLADLTRSLSDNINL

Slime mold                    FRNGDRYHVEGVHCLVHSSKFKTFDQLKLEFSK----KVGL
Sequence annotation in neighborhood: help 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 53 – 139 Doublecortin 1
Modified residue 70 – 70 Phosphotyrosine; by ABL
Modified residue 74 – 74 Phosphoserine; by PKC
Modified residue 90 – 90 Phosphoserine; by CK2
Beta strand 77 – 79



Literature citations
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Sossey-Alaoui K.; Hartung A.J.; Guerrini R.; Manchester D.K.; Posar A.; Puche-Mira A.; Andermann E.; Dobyns W.B.; Srivastava A.K.;
Hum. Mol. Genet. 7:1327-1332(1998)
Cited for: VARIANTS LISX1/SBHX LEU-78; ALA-100; CYS-186 AND LYS-200; Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Matsumoto N.; Leventer R.J.; Kuc J.A.; Mewborn S.K.; Dudlicek L.L.; Ramocki M.B.; Pilz D.T.; Mills P.L.; Das S.; Ross M.E.; Ledbetter D.H.; Dobyns W.B.;
Eur. J. Hum. Genet. 9:5-12(2001)
Cited for: VARIANTS SBHX ARG-47; HIS-59; LEU-78; HIS-86; GLY-89; ARG-97; ALA-100; THR-104; CYS-186; TRP-192; HIS-196; ILE-200; LYS-200; ALA-203; ARG-203; THR-214; VAL-223 AND SER-251;
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.