Sequence information
Variant position: 262 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:
FFGDDDVFIACGPEKFRYAQ
D DFSLDENECRVMKGNPSATA
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 FFGDDDVFIACGPEKFRYAQD DFSLDENECRVMKGNPSATA
Mouse FFGDDDVFIACGPEKFRYAQD DFSLDENECRVMKGNPSAAA
Rat FFGDDDVFIACGPEKFRYAQD DFSLDENECRVMKGNPSATA
Slime mold II-DGEYYVCAGGETL----- --------------NPLDFS
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
180 – 263
Doublecortin 2
Modified residue
265 – 265
Phosphoserine; by CK2
Literature citations
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.
Tsai M.H.; Kuo P.W.; Myers C.T.; Li S.W.; Lin W.C.; Fu T.Y.; Chang H.Y.; Mefford H.C.; Chang Y.C.; Tsai J.W.;
Eur. J. Paediatr. Neurol. 20:788-794(2016)
Cited for: VARIANT LISX1 GLY-262; CHARACTERIZATION OF VARIANT LISX1 GLY-262; SUBUNIT;
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.