TGFBR1 D400G - GET-Evidence

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

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Curation:
Currentness:

TGFBR1 D400G

(TGFBR1 Asp400Gly)


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
 

    GeneTests
  • GeneTests records for the TGFBR1 gene
    Thoracic Aortic Aneurysms and Aortic Dissections
    Furlong Syndrome
    Loeys-Dietz Syndrome
    TGFBR1-Related Loeys-Dietz Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFBR1
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (7 hits -- see all)
  • OMIM: 190181
    The membrane-bound protein encoded by TGFBR1 binds TGF-beta and forms a heterodimeric ... 7 of the TGFBR1 gene, resulting in an asp400-to-gly (D400G) substitution in the kinase ...
    www.genome.jp/dbget-bin/www_bget?omim+190181
  • Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
    We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys–Dietz ... Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and wide ...
    content.nejm.org/cgi/reprint/355/8/788.pdf
  • Monogenic disorders: from gene to therapy
    4 families: TGFBR1 mutation identified. Wieser et al. EMBO Journal, ... D400G. 8. 9. F234L. R487W. S241L (X2) TGFBR2. C533R. C533F. N384S. A350E. N=52. N478S. M457K. G374E ...
    fkserv.ugent.be/vbk/bestanden/33/bestand147.pdf
  • BioMed Central | Full text | An integrated approach to the ...
    An integrated approach to the interpretation of Single Amino Acid Polymorphisms ... pathogenic deviations (R487P, M318R and D400G) in the server for this ...
    www.biomedcentral.com/1471-2105/10/S8/S5
  • An integrated approach to the interpretation of Single Amino ...
    Published online 2009 August 27. doi: 10.1186/1471-2105-10-S8-S5. PMCID: PMC2745587 ... as pathogenic deviations (R487P, M318R and D400G) in the server for this protein, which ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2745587
  • Marfan syndroom
    D400G. 8. 9. F234L. R487W. S241L (X2) TGFBR2. TGFBR1. C533R. C533F. N384S ... A527V. TGFBR1 and 2. Vergeet de UVULA niet ! Differentiaal diagnose Marfan syndroom ...
    vwvj.be/goto.php?id=d07e70efcfab08731a97e7b91be644de&type...
  • Defects of cell surface proteins
    D400G. 8. 9. F234L. R487W. S241L (X2) TGFBR2. C533R. C533F. N384S. A350E. N478S ... Loeys-Dietz Syndrome (TGFBR1/2) Vascular EDS (COL3A1, TGFBR1/2) Arterial Tortuosity ...
    beshg.be/.../PostgraduateCourse_Day3_Part5.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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