Sequence information
Variant position: 42 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:
RMNGLPSPTHSAHCSFYRTR
T LQALSNEKKAKKVRFYRNGD
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 RMNGLPSPTHSAHCSFYRTRT LQALSNEKKAKKVRFYRNGD
Mouse RMNGLPSPTHSAHCSFYRTRT LQALSNEKKAKKVRFYRNGD
Rat RMNGLPSPTHSAHCSFYRTRT LQALSNEKKAKKVRFYRNGD
Slime mold STSGKPKMEKF---------- --GLQTDKSARVI-LFRNGD
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
Modified residue
28 – 28
Phosphoserine; by CDK5
Modified residue
47 – 47
Phosphoserine; by MARK1 and PKA
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.