Sequence information
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:
YTIDGSRKIGSMDELEEGES
Y VCSSDNFFKKVEYTKNVNPN
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 YTIDGSRKIGSMDELEEGESY VCSS-------------DNFFKKVE-------------YTKNVNP--------N
Mouse YTIDGSRKIGSMDELEEGESY VCSS-------------DNF
Rat YTIDGSRKIGSMDELEEGESY VCSS-------------DNF
Slime mold YSMD-KKRIQDIKDFVDGHHY ICCGAEPLNTEVIPKGIQDI
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
110 – 110
Phosphoserine; by PKC
Modified residue
115 – 115
Phosphoserine; by CK2, MARK1 and PKA
Beta strand
124 – 131
Literature citations
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;
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.