Variant position: 178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 223 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 VNFHFILFNNVDGHLYELDG RMPFPVNHGASSEDTLLKDAA
Mouse VNFHFILFNNVDGHLYELDG RMPFPVNHGASSEDSLLQDAA
Rat VNFHFILFNNVDGHLYELDG RMPFPVNHGASSEDSLLQDAA
Pig VNFHFILFNNVDGHLYELDG RMPFPVNHGASSEDSLLQDAA
Bovine VNFHFILFNNVDGHLYELDG RMPFPVNHGTSSEDSLLQDAA
Horse VNFHFILFNNVDGHLYELDG RMPFPVNHGASSEDLLLQDAA
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 – 220 Ubiquitin carboxyl-terminal hydrolase isozyme L1
161 – 161 Proton donor
176 – 176 Important for enzyme activity
179 – 179 Susceptible to oxidation
161 – 161 H -> D. 10000-fold decrease in enzymatic activity; no change in affinity for ubiquitin ethyl ester.
161 – 161 H -> KQNY. Abolishes enzymatic activity.
176 – 176 D -> N. 6-fold decrease in affinity for ubiquitin ethyl ester; 97.5% decrease in enzymatic activity.
Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Rydning S.L.; Backe P.H.; Sousa M.M.; Iqbal Z.; Oeye A.M.; Sheng Y.; Yang M.; Lin X.; Slupphaug G.; Nordenmark T.H.; Vigeland M.D.; Bjoeraas M.; Tallaksen C.M.; Selmer K.K.;
Hum. Mol. Genet. 26:1031-1040(2017)
Cited for: VARIANTS SPG79 GLN-178 AND ASP-216; CHARACTERIZATION OF VARIANTS SPG79 GLN-178 AND ASP-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.