Variant position: 47 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 PSPTHSAHCSFYRTRTLQAL SNEKKAKKVRFYRNGDRYF-KG
Mouse PSPTHSAHCSFYRTRTLQAL SNEKKAKKVRFYRNGDRYF-K
Rat PSPTHSAHCSFYRTRTLQAL SNEKKAKKVRFYRNGDRYF-K
Slime mold PKMEKF------------GL QTDKSARVI-LFRNGDRYHVE
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
28 – 28 Phosphoserine; by CDK5
47 – 47 Phosphoserine; by MARK1 and PKA
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Gleeson J.G.; Allen K.M.; Fox J.W.; Lamperti E.D.; Berkovic S.; Scheffer I.; Cooper E.C.; Dobyns W.B.; Minnerath S.R.; Ross M.E.; Walsh C.A.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS LISX1 ARG-47; LEU-59 AND ARG-203;
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.