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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96K19: Variant p.Cys107Trp

E3 ubiquitin-protein ligase RNF170
Gene: RNF170
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Variant information Variant position: help 107 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 Cysteine (C) to Tryptophan (W) at position 107 (C107W, p.Cys107Trp). 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 medium size and polar (C) to large size and aromatic (W) 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 SPG85. Any additional useful information about the variant.


Sequence information Variant position: help 107 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 258 The length of the canonical sequence.
Location on the sequence: help CPICLHQASFPVETNCGHLF C GACIIAYWRYGSWLGAISCP 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                         CPICLHQASFPVETNCGHLFCGACIIAYWRYGSWLGAISCP

Mouse                         CPICLHQASFPVETNCGHLFCGSCIIAYWRYGSWLGAISCP

Bovine                        CPICLHQASLPVETNCGHLFCGTCIVAYWRYGSWLGAISCP

Xenopus laevis                CPVCLQQATFPVETNCGHLFCGSCIIAYWRYGTWLGAINCP

Xenopus tropicalis            CPVCLQQATFPVETNCGHLFCGSCIIAYWRYGSWLGAINCP

Zebrafish                     CPVCLQQAVLPVETNCGHLFCGSCIIAYWRYGTWLGAISCP
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 – 258 E3 ubiquitin-protein ligase RNF170
Topological domain 46 – 201 Cytoplasmic
Zinc finger 87 – 130 RING-type
Alternative sequence 97 – 132 PVETNCGHLFCGACIIAYWRYGSWLGAISCPICRQT -> MHLLPLDSSSTLTCTVPSACTKPPSRWRPTVDIFFV. In isoform 4.
Mutagenesis 102 – 102 C -> S. Complete loss of E3 ligase activity; when associated with A-104.
Mutagenesis 104 – 104 H -> A. Complete loss of E3 ligase activity; when associated with S-102.



Literature citations
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.
Chouery E.; Mehawej C.; Megarbane A.;
Neurogenetics 23:85-90(2022)
Cited for: VARIANT SPG85 TRP-107;
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.