Variant position: 216 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 EDNSEISDSEDDSCKSKTAA AAADVNGFKPLSGNEQLKNNG
Mouse ESNSEISDSEDDSCKSKS-T AATDVNGFKP-SGSENPKNNG
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
199 – 199 Phosphoserine
202 – 202 Phosphoserine
204 – 204 Phosphoserine
211 – 1114 Missing. In isoform 4.
231 – 231 Missing. In isoform 2.
181 – 550 Missing. Abolishes interaction with USP7 and USP9X deubiquitinases.
202 – 202 S -> A. Decreases 'Lys-63'-specific deubiquitinase activity. Loss of 'Lys-63'-specific deubiquitinase activity; when associated with A-204.
204 – 204 S -> A. Loss of 'Lys-63'-specific deubiquitinase activity; when associated with A-204.
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING (ISOFORM 2); VARIANTS GLY-194 AND THR-216;
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.