COL5A1 G1489E - GET-Evidence

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

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Curation:
Currentness:

COL5A1 G1489E

(COL5A1 Gly1489Glu)


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
 

    Web search results (29 hits -- see all)
  • Compound heterozygosity for a disease-causing G1489E ...
    Compound heterozygosity for a disease-causing G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of a patient with ...
    www.ncbi.nlm.nih.gov/pubmed/10602121
  • Ehlers-Danlos Syndrome, Classic Type -- GeneReviews -- NCBI ...
    The genes encoding type V collagen, COL5A1 and COL5A2, are known to be associated with ... G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds
  • Forschungsdatenbank der Universit├Ąt Z├╝rich
    identified the first glycine to glutamic acid substitution (G1489E) in the alpha1(V) collagen chain. ... disease-modifying G530S substitution in COL5A1 of a patient with the ...
    www.research-projects.uzh.ch/media/pdf/p1900.pdf
  • Collagen, type V, alpha 1 - Wikipedia, the free encyclopedia
    Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the ... G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of ...
    en.wikipedia.org/wiki/Collagen,_type_V,_alpha_1
  • Development of a Functional Skin Matrix Requires Deposition ...
    Mean fold changes in Col5a1 and Col5a2 gene expression were calculated for wild-type and ... G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of ...
    mcb.asm.org/cgi/content/full/24/13/6049
  • Collagen alpha-1(V) chain precursor - Homo sapiens (Human)
    Defects in COL5A1 are a cause of Ehlers-Danlos syndrome type 1 (EDS1) ... a disease-causing G1489E and disease-modifying G530S substitution in COL5A1 of ...
    www.uniprot.org/uniprot/P20908
  • Tropes
    One of the ways NLM assists users is to add subsequent notices of errata, ... causing G1489e correction of G1489d and disease-modifying G530s substitution in COL5A1 of ...
    freesense.free.fr/Diseases/d/002A.htm
  • Rare Autosomal Recessive Cardiac Valvular Form of Ehlers ...
    a disease-causing G1489E [correction of G1489D] and dis- ease-modifying G530S substitution in COL5A1 of a patient ... exon skip, in a COL5A1 acceptor-site mutation that results ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Beat Steinmann - research profile on BiomedExperts
    Beat Steinmann - research profile on BiomedExperts:Ehlers-Danlos Syndrome, Collagen, Mutation, Fibroblasts, Osteogenesis Imperfecta, Marfan Syndrome.
    www.biomedexperts.com/Profile.bme/1350588/NN
  • A glycine to aspartic acid substitution of COL2A1 in a family ...
    View Current Issue (Volume 103 Issue 3 ) Archive. Search. Oxford ... G1489E (correction of G1489D) and disease modifying G530S substitutions in COL5A1 of ...
    qjmed.oxfordjournals.org/cgi/content/full/96/9/663

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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