TGFBR1 R487W - GET-Evidence

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

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(TGFBR1 Arg487Trp)

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: 1.0 (probably damaging)
    Web search results (8 hits -- see all)
  • Phenotypic features associated with TGFBR1 and TGFBR2 ...
    We report 4 multigeneration families with FTAAD due to TGFBR1 mutations (G312S, H315R, L486S, and R487W). To define the extent and progression ...
  • OMIM: 190181
    Although subtle, the reduction in constitutive TGFBR1 expression alters SMAD-mediated TGF-beta signaling. ... identified heterozygosity for the R487W mutation in the TGFBR1 gene. ...
  • 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 ...
  • Monogenic disorders: from gene to therapy
    4 families: TGFBR1 mutation identified. Wieser et al. EMBO Journal, ... R487W. S241L (X2) TGFBR2. C533R. C533F. N384S. A350E. N=52. N478S. M457K. G374E. M318R. IVS5-1G>A ...
  • 3-М синдромНаследственные заболевания зрительного нерваОбзор ...
    Congenital Disorders of Glycosylation Overview [CDG Syndromes, Carbohydrate-Deficient Glycoprotein Syndromes]
  • Type II- 95%
    ... haplotype 4 TGFBR1 P36897 R487P 493 VAR_022347 PKC (0.645) LDAS, type II ... 11013440 8280139 7715297 11061796 9621515 TGFBR1 P36897 R487W 493 VAR_029485 PKC (0.645) ...
  • Marfan syndroom
    R487W. S241L (X2) TGFBR2. TGFBR1. C533R. C533F. N384S. A350E. N=50. N478S. M457K. G374Q. M318R. IVS5 ... TGFBR1. en. TGFBR2. FBN1 – andere. Gen. Loeys-Dietz. Shprintzen-Goldberg ...
  • Defects of cell surface proteins
    R487W. S241L (X2) TGFBR2. C533R. C533F. N384S. A350E. N478S. M457K. G374E ... Loeys-Dietz Syndrome (TGFBR1/2) Vascular EDS (COL3A1, TGFBR1/2) Arterial Tortuosity ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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