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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UNE7: Variant p.Trp147Cys

E3 ubiquitin-protein ligase CHIP
Gene: STUB1
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Variant information Variant position: help 147 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Tryptophan (W) to Cysteine (C) at position 147 (W147C, p.Trp147Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and aromatic (W) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SCAR16. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 147 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 303 The length of the canonical sequence.
Location on the sequence: help QRLNFGDDIPSALRIAKKKR W NSIEERRIHQESELHSYLSR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         QRLNFGDDIPSALRIAKKKRWNSIEERRIHQESELHSYLSR

Mouse                         QRLNFGDDIPSALRIAKKKRWNSIEERRIHQESELHSYLTR

Rat                           QRLNFGDDIPSALRIAKKKRWNSIEERRIHQESELHSYLTR

Chicken                       QRLNFGDDIPSALRIAKKKRWNSIEEKRINQENELHSYLTR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 303 E3 ubiquitin-protein ligase CHIP
Region 101 – 200 Required for interaction with MAPK7
Region 142 – 196 Required for interaction with and ubiquitination of MYOCD
Region 143 – 303 Required for ubiquitination of FOXO1
Region 143 – 197 Required for interaction with FOXO1
Modified residue 149 – 149 Phosphoserine
Helix 134 – 149



Literature citations
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
Shi Y.; Wang J.; Li J.D.; Ren H.; Guan W.; He M.; Yan W.; Zhou Y.; Hu Z.; Zhang J.; Xiao J.; Su Z.; Dai M.; Wang J.; Jiang H.; Guo J.; Zhou Y.; Zhang F.; Li N.; Du J.; Xu Q.; Hu Y.; Pan Q.; Shen L.; Wang G.; Xia K.; Zhang Z.; Tang B.;
PLoS ONE 8:E81884-E81884(2013)
Cited for: VARIANTS SCAR16 ILE-130; CYS-147; PHE-165 AND THR-236; INVOLVEMENT IN SCAR16;
Disclaimer: 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.