Variant position: 192 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:
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 ENKDFV---------------RPKLVTIIRSGVKP RKAVRVLLNKKTAHSFEQVLT
Mouse ENKDFV---------------RPKLVTIIRSGVKP RKAVRV
Rat ENKDFV---------------RPKLVTIIRSGVKP RKAVRV
Slime mold VVSAYKESAVHSIDKFSVQTEKAKVIMCFRNGDRY HSGERV
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
1 – 365 Neuronal migration protein doublecortin
180 – 263 Doublecortin 2
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.
Des Portes V.; Pinard J.-M.; Billuart P.; Vinet M.-C.; Koulakoff A.; Carrie A.; Gelot A.; Dupuis E.; Motte J.; Berwald-Netter Y.; Catala M.; Kahn A.; Beldjord C.; Chelly J.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2); ALTERNATIVE SPLICING; VARIANTS LISX1 ASN-62; HIS-125 AND TRP-192;
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;
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.