Variant position: 216 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 332 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 VSYQKAMFIFLSNAGAERIT DVALDFWRSGKQREDIKLKDI
Mouse VSYQKAIFIFLSNAGAERIT DVALDFWKSGKQREEIKLRDM
Rat VSYQKAIFIFLSNAGAERIT DVALDFWRSGKQREEIKLRDM
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
21 – 332 Torsin-1A
91 – 251 Interaction with SNAPIN
149 – 332 DQLQLWIRGNVSACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD -> ARMEVWNPFLDVIGFGVSLLWDEIWEFYVEMSEPGKRFMSQFPLERCRS. In isoform 2.
211 – 223
New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana L.G.; Torres F.R.; Azevedo P.C.; Amaral T.P.; Lopes-Cendes I.; D'Abreu A.;
Acta Neurol. Scand. 135:183-188(2017)
Cited for: VARIANT HIS-216;
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