Variant position: 205 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 PFLDYYDLVDGVSYQKAMFI FLSNAGAERITDVALDFWRSG
Mouse PFLDYYDVVDEVSYQKAIFI FLSNAGAERITDVALDFWKSG
Rat PFLDYYDVVDEVSYQKAIFI FLSNAGAERITDVALDFWRSG
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.
202 – 207
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
Calakos N.; Patel V.D.; Gottron M.; Wang G.; Tran-Viet K.N.; Brewington D.; Beyer J.L.; Steffens D.C.; Krishnan R.R.; Zuechner S.;
J. Med. Genet. 47:646-650(2010)
Cited for: VARIANT DYT1 ILE-205; CHARACTERIZATION OF VARIANTS DYT1 ILE-205 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;
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.