TGFBR1 R487Q - GET-Evidence

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

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(TGFBR1 Arg487Gln)

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: 0.999 (probably damaging)
    Web search results (9 hits -- see all)
  • Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
    and TGFBR1 mutations were found in 4 patients with type II and 13 with type I. ... One patient with the R487Q mutation in. TGFBR1 died from aortic dissection at six months ...
  • OMIM: 190181
    The membrane-bound protein encoded by TGFBR1 binds TGF-beta and forms a heterodimeric ... TGFBR1 gene that caused an arg487-to-gln substitution in the protein (R487Q). Mutation ...
  • Monogenic disorders: from gene to therapy
    4 families: TGFBR1 mutation identified. Wieser et al. EMBO Journal, ... R487Q. R487P. D400G. 8. 9. F234L. R487W. S241L (X2) TGFBR2. C533R. C533F. N384S. A350E. N=52. N478S ...
  • 3-М синдромНаследственные заболевания зрительного нерваОбзор ...
    Congenital Disorders of Glycosylation Overview [CDG Syndromes, Carbohydrate-Deficient Glycoprotein Syndromes]
  • Type II- 95%
    ... Q8N5D6 D200N 201 VAR_025071 JakA (0.612) SERPING1 P05155 R466H 463 VAR_007020 PKC (0.668) ... 11013440 8280139 7715297 11061796 9621515 TGFBR1 P36897 R487W 493 VAR_029485 PKC ...
  • Newsletter de Lípidos & Ateroesclerosis
    Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and ... S241L mutation in TGFBR1 and three patients with the R487Q mutation in TGFBR1. ...
  • Marfan syndroom
    R487Q* (X2) R487P* R487P. D400G. 8. 9. F234L. R487W. S241L (X2) TGFBR2. TGFBR1. C533R. C533F. N384S ... TGFBR1 and 2. Vergeet de UVULA niet ! Differentiaal diagnose Marfan ...
  • Defects of cell surface proteins
    R487Q(X2) R487P. R495X. E519K. Transforming growth factor beta receptor 1 and 2. Control. MFS ... Loeys-Dietz Syndrome (TGFBR1/2) Vascular EDS (COL3A1, TGFBR1/2) Arterial Tortuosity ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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