Sequence information
Variant position: 50 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:
THSAHCSFYRTRTLQALSNE
K KAKKVRFYRNGDRYFKGIVY
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 THSAHCSFYRTRTLQALSNEK KAKKVRFYRNGDRYF-KGIVY
Mouse THSAHCSFYRTRTLQALSNEK KAKKVRFYRNGDRYF-KGIV
Rat THSAHCSFYRTRTLQALSNEK KAKKVRFYRNGDRYF-KGIV
Slime mold EKF------------GLQTDK SARVI-LFRNGDRYHVEGVH
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
47 – 47
Phosphoserine; by MARK1 and PKA
Modified residue
70 – 70
Phosphotyrosine; by ABL
Literature citations
Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.
Kato M.; Kanai M.; Soma O.; Takusa Y.; Kimura T.; Numakura C.; Matsuki T.; Nakamura S.; Hayasaka K.;
Ann. Neurol. 50:547-551(2001)
Cited for: VARIANT SBHX ASN-50;
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.