Sequence information
Variant position: 186 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:
NSAQARENKDFVRPKLVTII
R SGVKPRKAVRVLLNKKTAHS
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 NSAQARENKDFV---------------RPKLVTIIR SGVKPRKAVRVLLNKKTAHS
Mouse NSAQARENKDFV---------------RPKLVTIIR SGVKP
Rat NSAQARENKDFV---------------RPKLVTIIR SGVKP
Slime mold QSPKKPVVSAYKESAVHSIDKFSVQTEKAKVIMCFR NGDRY
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
1 – 365
Neuronal migration protein doublecortin
Domain
180 – 263
Doublecortin 2
Beta strand
180 – 191
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;
A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.
Kato M.; Kimura T.; Lin C.; Ito A.; Kodama S.; Morikawa T.; Soga T.; Hayasaka K.;
Hum. Genet. 104:341-344(1999)
Cited for: VARIANT SBHX CYS-186;
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.