Variant position: 244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 352 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 EEYSLYEAVKFLMLNRAIEL YNDKEKGKEVPFFSVLLFARD
Mouse EEYSLYEAVKFLMLNRAIEL YDDKEKGKEVPFFSVLLFARD
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 – 352 Ubiquitin thioesterase otulin
118 – 346 OTU
259 – 259 L -> E. Decreased affinity for linear diubiquitin.
223 – 248
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
Zhou Q.; Yu X.; Demirkaya E.; Deuitch N.; Stone D.; Tsai W.L.; Kuehn H.S.; Wang H.; Yang D.; Park Y.H.; Ombrello A.K.; Blake M.; Romeo T.; Remmers E.F.; Chae J.J.; Mullikin J.C.; Guezel F.; Milner J.D.; Boehm M.; Rosenzweig S.D.; Gadina M.; Welch S.B.; Oezen S.; Topaloglu R.; Abinun M.; Kastner D.L.; Aksentijevich I.;
Proc. Natl. Acad. Sci. U.S.A. 113:10127-10132(2016)
Cited for: INVOLVEMENT IN AIPDS; FUNCTION; VARIANTS AIPDS CYS-244 AND PRO-272; CHARACTERIZATION OF VARIANTS AIPDS CYS-244 AND PRO-272;
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.