Sequence information
Variant position: 59 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:
RTRTLQALSNEKKAKKVRFY
R NGDRYFKGIVYAVSSDRFRS
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 RTRTLQALSNEKKAKKVRFYR NGDRYF-KGIVYAVSSDRFRS
Mouse RTRTLQALSNEKKAKKVRFYR NGDRYF-KGIVYAVSSDRFR
Rat RTRTLQALSNEKKAKKVRFYR NGDRYF-KGIVYAVSSDRFR
Slime mold ------GLQTDKSARVI-LFR NGDRYHVEGVHCLVHSSKFK
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
53 – 139
Doublecortin 1
Modified residue
47 – 47
Phosphoserine; by MARK1 and PKA
Modified residue
70 – 70
Phosphotyrosine; by ABL
Modified residue
74 – 74
Phosphoserine; by PKC
Beta strand
53 – 59
Literature citations
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.