TGFBR1 M318R - GET-Evidence

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

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(TGFBR1 Met318Arg)

Short summary


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


Insufficiently evaluated pathogenic

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • GeneTests records for the TGFBR1 gene
    Thoracic Aortic Aneurysms and Aortic Dissections
    Furlong Syndrome
    Loeys-Dietz Syndrome
    TGFBR1-Related Loeys-Dietz Syndrome
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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