SUMF1 C336R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

SUMF1 C336R

(SUMF1 Cys336Arg)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (16 hits -- see all)
  • SUMF1 enhances sulfatase activities in vivo in five sulfatase ...
    SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies ... SUMF1 C336R mutant impairs the sulfatase-enhancing activity. Overall, our data demonstrate ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1874239
  • Multiple sulfatase deficiency is due to hypomorphic mutations ...
    SUMF1, being responsible for the residual activity observed in MSD patients. ... p.C336R mutation did not produce any sulfatase activity (Fig. 3). SUMF1 Hypomorphic ...
    www3.interscience.wiley.com/homepages/38515/pdf/975.pdf
  • Molecular and functional analysis of SUMF1 mutations in ...
    SUMF1 strongly enhances the activity of sulfatases when coexpressed ... p.A279V, p.R349Q, p.C336R, p.A177P) resulted in severely impaired sulfatase-enhancing ...
    www.ncbi.nlm.nih.gov/pubmed/15146462
  • OMIM: 607939
    A SUMF1 paralog, SUMF2 (607940), shares 48% amino acid identity with SUMF1. ... Coexpression of SUMF1 with sulfatases resulted in a synergistic increase of ...
    www.genome.jp/dbget-bin/www_bget?omim+607939
  • Sulfatase Modifying Enzymes
    The Internet's largest site for genomics of sulfatase and their modifying enzymes. ... and hydra (both cnidarians) also contain only SUMF1. However planaria and diatom so far ...
    mad-cow.org/.../tools/genbrow/sulfatases/sulfatase_mod.html
  • PII: S0092-8674(03)00348-9
    mologs than to the human SUMF1 sequence, thus sug- gesting that a second gene was ... start codon of the human SUMF1 gene is conserved in. sues predicts a ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • PII: S0092-8674(03)00347-7
    higher than to the SUMF1 encoded FGE of the same. species. For example, ... elegans lack SUMF1 homologs. In prokaryotes, 13 orthologs of the SUMF1 gene were ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • PubMed: 15146462
    SUMF1 strongly enhances the activity of sulfatases when coexpressed with ... p.A279V, p.R349Q, p.C336R, p.A177P) resulted in severely impaired sulfatase-enhancing ...
    www.genome.jp/dbget-bin/www_bget?pubmed+15146462
  • Molecular and functional analysis of SUMF1 mutations in ...
    SUMF1 strongly enhances the activity of sulfatases when coexpressed ... p.A279V, p.R349Q, p.C336R, p.A177P) resulted in severely impaired sulfatase-enhancing ...
    www.uniprot.org/citations/15146462
  • Pepe, S (Stefano)
    Pepe, S (Stefano) :: Enhancement of antitumor activity of ionizing radiation by combined treatment with the selective epidermal growth factor receptor-tyrosine kinase ...
    lib.bioinfo.pl/auid:1149165

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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