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:
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 THSAHCSFYRTRTLQALSNE KKAKKVRFYRNGDRYF-KGIVY
Mouse THSAHCSFYRTRTLQALSNE KKAKKVRFYRNGDRYF-KGIV
Rat THSAHCSFYRTRTLQALSNE KKAKKVRFYRNGDRYF-KGIV
Slime mold EKF------------GLQTD KSARVI-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
1 – 365 Neuronal migration protein doublecortin
47 – 47 Phosphoserine; by MARK1 and PKA
70 – 70 Phosphotyrosine; by ABL
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;
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