Sequence information
Variant position: 243 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:
GVVKKLYTLDGKQVTCLHDF
F GDDDVFIACGPEKFRYAQDD
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 GVVKKLY-TLDGKQVTCLHDFF GDDDVFIACGPEKFRYAQDD
Mouse GVVKKLY-TLDGKQVTCLHDFF GDDDVFIACGPEKFRYAQD
Rat GVVKKLY-TLDGKQVTCLHDFF GDDDVFIACGPEKFRYAQD
Slime mold GPVRKLYLASSGKLVKTMEEII -DGEYYVCAGGETL-----
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
Beta strand
243 – 245
Literature citations
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.
Aigner L.; Uyanik G.; Couillard-Despres S.; Ploetz S.; Wolff G.; Morris-Rosendahl D.; Martin P.; Eckel U.; Spranger S.; Otte J.; Woerle H.; Holthausen H.; Apheshiotis N.; Fluegel D.; Winkler J.;
Neurology 60:329-332(2003)
Cited for: VARIANTS LISX1 ILE-42; ASP-60; SER-71 AND LEU-243;
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.