Variant position: 125 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 YTIDGSRKIGSMDELEEGES YVCSS-------------DNFFKKVE-------------YTKNVNP--------N
Mouse YTIDGSRKIGSMDELEEGES YVCSS-------------DNF
Rat YTIDGSRKIGSMDELEEGES YVCSS-------------DNF
Slime mold YSMD-KKRIQDIKDFVDGHH YICCGAEPLNTEVIPKGIQDI
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
53 – 139 Doublecortin 1
110 – 110 Phosphoserine; by PKC
115 – 115 Phosphoserine; by CK2, MARK1 and PKA
124 – 131
Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
Des Portes V.; Francis F.; Pinard J.-M.; Desguerre I.; Moutard M.-L.; Snoeck I.; Meiners L.C.; Capron F.; Cusmai R.; Ricci S.; Motte J.; Echenne B.; Ponsot G.; Dulac O.; Chelly J.; Beldjord C.;
Hum. Mol. Genet. 7:1063-1070(1998)
Cited for: VARIANTS SBHX ASP-125; GLU-223 AND THR-250;
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.