TGFBR1 M318R - GET-Evidence

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

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Curation:
Currentness:

TGFBR1 M318R

(TGFBR1 Met318Arg)


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: 0.989 (probably damaging)
    Web search results (8 hits -- see all)
  • Interrogation of the Pathogenesis of Loeys-Dietz Syndrome ...
    Loeys-Dietz syndrome (LDS) is a recently described systemic connective tissue ... mutations in Tgfbr1 (M318R) or Tgfbr2 (G357W) and a transgenic strain that ubiquitously ...
    www.ashg.org/2009meeting/abstracts/fulltext/f21862.htm
  • OMIM: 190181
    The membrane-bound protein encoded by TGFBR1 binds TGF-beta and forms a heterodimeric ... of the TGFBR1 gene that resulted in a met318-to-arg (M318R) 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
  • The American Society of Human Genetics 59
    (TGFBR1/Alk5 and TGFBR2, respectively). Expression of mutant receptor ... sense mutations in Tgfbr1 (M318R) or Tgfbr2 (G357W) and a transgenic. strain that ...
    www.ashg.org/2009meeting/pdf/poster_4up.pdf
  • Monogenic disorders: from gene to therapy
    4 families: TGFBR1 mutation identified. Wieser et al. EMBO Journal, ... M318R. IVS5-1G>A. C461Y(X2) K232E. G353V. A527V. R487Q(X2) R487P. R495X. E519K. Transforming ...
    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 within ... as pathogenic deviations (R487P, M318R and D400G) in the server ...
    www.biomedcentral.com/1471-2105/10/S8/S5
  • Marfan syndroom
    M318R. IVS5-1G>A. C461Y. K232E. G353V. A527V. TGFBR1 and 2. Vergeet de UVULA niet ! ... TGFBR1. of. 2. mutaties. Loeys-Dietz syndroom versus Shprintzen-Goldberg syndroom ...
    vwvj.be/goto.php?id=d07e70efcfab08731a97e7b91be644de&type...
  • Defects of cell surface proteins
    M318R. IVS5-1G>A. C461Y(X2) K232E. G353V. A527V. R487Q(X2) R487P. R495X ... 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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