Variant position: 398 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1114 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 PPRLQHPS-GVRQHAFSSHSS GSQSQKFSSEHKNLSRTPSQI
Mouse PPRLQHPSSGVRQHAFSSHST GSQSQKSSSEHKNLSRMPSQ
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 – 1114 OTU domain-containing protein 4
323 – 449 Disordered
387 – 417 Polar residues
211 – 1114 Missing. In isoform 4.
181 – 550 Missing. Abolishes interaction with USP7 and USP9X deubiquitinases.
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
Margolin D.H.; Kousi M.; Chan Y.M.; Lim E.T.; Schmahmann J.D.; Hadjivassiliou M.; Hall J.E.; Adam I.; Dwyer A.; Plummer L.; Aldrin S.V.; O'Rourke J.; Kirby A.; Lage K.; Milunsky A.; Milunsky J.M.; Chan J.; Hedley-Whyte E.T.; Daly M.J.; Katsanis N.; Seminara S.B.;
N. Engl. J. Med. 368:1992-2003(2013)
Cited for: VARIANT VAL-398;
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