Sequence information
Variant position: 251 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:
LDGKQVTCLHDFFGDDDVFI
A CGPEKFRYAQDDFSLDENEC
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 LDGKQVTCLHDFFGDDDVFIA CGPEKFRYAQDDFSLDENEC
Mouse LDGKQVTCLHDFFGDDDVFIA CGPEKFRYAQDDFSLDENEC
Rat LDGKQVTCLHDFFGDDDVFIA CGPEKFRYAQDDFSLDENEC
Slime mold SSGKLVKTMEEII-DGEYYVC AGGETL--------------
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
Beta strand
248 – 252
Literature citations
Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.
Sakamoto M.; Ono J.; Okada S.; Nakamura Y.; Kurahashi H.;
J. Hum. Genet. 45:167-170(2000)
Cited for: VARIANT SBHX VAL-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.