Variant position: 600 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 852 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 AAANKFRIKSPFPEQP-AVSA GERPPSRLDLNVTQASCAISP
Mouse AAASKFRIKSPFLDQP-GAGT GERPPSRLDGIVPPPGCAVS
Bovine AAAGKFRIKSPFLEHPPTVGA GDRPPSRLDHPFSAASCAVS
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
25 – 852 Thrombospondin type-1 domain-containing protein 1
435 – 852 Cytoplasmic
430 – 852 Missing. In isoform 3.
THSD1 (thrombospondin type 1 domain containing protein 1) mutation in the pathogenesis of intracranial aneurysm and subarachnoid emorrhage.
Santiago-Sim T.; Fang X.; Hennessy M.L.; Nalbach S.V.; DePalma S.R.; Lee M.S.; Greenway S.C.; McDonough B.; Hergenroeder G.W.; Patek K.J.; Colosimo S.M.; Qualmann K.J.; Hagan J.P.; Milewicz D.M.; MacRae C.A.; Dymecki S.M.; Seidman C.E.; Seidman J.G.; Kim D.H.;
Cited for: INVOLVEMENT IN ANIB12; VARIANTS ANIB12 PHE-5; 450-ARG--ILE-852 DEL; TRP-460; GLY-466; GLU-600; LEU-639; ILE-653 AND PRO-775; CHARACTERIZATION OF VARIANTS ANIB12 PHE-5; 450-ARG--ILE-852 DEL; TRP-460; GLY-466; GLU-600; LEU-639; ILE-653 AND PRO-775; FUNCTION; INTERACTION WITH TLN1;
The Intracranial Aneurysm Gene THSD1 Connects Endosome Dynamics to Nascent Focal Adhesion Assembly.
Rui Y.N.; Xu Z.; Fang X.; Menezes M.R.; Balzeau J.; Niu A.; Hagan J.P.; Kim D.H.;
Cell. Physiol. Biochem. 43:2200-2211(2017)
Cited for: INVOLVEMENT IN ANIB12; CHARACTERIZATION OF VARIANTS ANIB12 TRP-460; GLY-466; GLU-600; LEU-639; ILE-653 AND PRO-775; FUNCTION; SUBCELLULAR LOCATION; SUBUNIT; INTERACTION WITH TLN1;
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