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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UQ90: Variant p.Trp583Cys

Mitochondrial inner membrane m-AAA protease component paraplegin
Gene: SPG7
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Variant information Variant position: help 583 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 583 (W583C, p.Trp583Cys). 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 SPG7; function impaired. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 583 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 795 The length of the canonical sequence.
Location on the sequence: help LSKEEQKVVAFHESGHALVG W MLEHTEAVMKVSITPRTNAA 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                         LSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAA

Mouse                         LSKEEQRVVAFHESGHALVGWLLEHTEAVMKVSIAPRTNAA

Rat                           LSKEEQRVVAFHESGHALVGWLLEHTEAVMKVSIAPRTNAA

Slime mold                    INPEETIIFGYISRNSTDVTFALSPTCSDSSSPTPTPTETP
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 106 – 795 Mitochondrial inner membrane m-AAA protease component paraplegin
Topological domain 270 – 795 Mitochondrial matrix
Active site 575 – 575
Binding site 574 – 574
Binding site 578 – 578
Alternative sequence 490 – 795 Missing. In isoform 2.
Mutagenesis 574 – 574 H -> G. Loss of proteolytic activity but no loss of interaction with PPIF; when associated with G-575 and S-577.
Mutagenesis 575 – 575 E -> G. Loss of proteolytic activity but no loss of interaction with PPIF; when associated with G-574 and S-577.
Mutagenesis 577 – 577 G -> S. No loss of interaction with PPIF. Loss of proteolytic activity but no loss of interaction with PPIF; when associated with G-574 and G-575.



Literature citations
Functional evaluation of paraplegin mutations by a yeast complementation assay.
Bonn F.; Pantakani K.; Shoukier M.; Langer T.; Mannan A.U.;
Hum. Mutat. 31:617-621(2010)
Cited for: VARIANTS SPG7 SER-349; VAL-510 AND CYS-583; VARIANTS ALA-503 AND GLN-688; CHARACTERIZATION OF VARIANTS SPG7 SER-349; VAL-510 AND CYS-583; CHARACTERIZATION OF VARIANTS ALA-503 AND GLN-688;
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.