Variant position: 288 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 PFLPLEYKHLKMCIRVEMQS RGYEIDEDIVSRVAEEMTFFP
Mouse PFLPLEYKHLKMCIRVEMQS RGYEVDEDIISKVAEEMTFFP
Rat PFLPLEYKHLKMCIRVEMQS RGYEEDEDIINKVAEEMTFFP
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
251 – 332 Interaction with KLC1
149 – 332 DQLQLWIRGNVSACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD -> ARMEVWNPFLDVIGFGVSLLWDEIWEFYVEMSEPGKRFMSQFPLERCRS. In isoform 2.
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
Zirn B.; Grundmann K.; Huppke P.; Puthenparampil J.; Wolburg H.; Riess O.; Muller U.;
J. Neurol. Neurosurg. Psych. 79:1327-1330(2008)
Cited for: VARIANT DYT1 GLN-288; CHARACTERIZATION OF VARIANTS DYT1 GLN-288 AND GLU-303 DEL;
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.
Hettich J.; Ryan S.D.; de Souza O.N.; Saraiva Macedo Timmers L.F.; Tsai S.; Atai N.A.; da Hora C.C.; Zhang X.; Kothary R.; Snapp E.; Ericsson M.; Grundmann K.; Breakefield X.O.; Nery F.C.;
Hum. Mutat. 35:1101-1113(2014)
Cited for: CHARACTERIZATION OF VARIANTS DYT1 ILE-205; GLN-288 AND GLU-303 DEL; FUNCTION; SUBUNIT;
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