TGFBR1 R487P - GET-Evidence

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

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Curation:
Currentness:

TGFBR1 R487P

(TGFBR1 Arg487Pro)


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 (10 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. ... in association with type I (R487P in TGFBR1 and. R528C and R528H in ...
    content.nejm.org/cgi/reprint/355/8/788.pdf
  • NEJM -- Aneurysm Syndromes Caused by Mutations in the TGF ...
    Conclusions Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and ... in association with type I (R487P in TGFBR1 and R528C and R528H in ...
    content.nejm.org/cgi/content/full/355/8/788
  • OMIM: 190181
    Two major TGFBR1 haplotypes are predominant among ASE cases, which suggested ancestral ... the TGFBR1 gene that resulted in an arg487-to-pro (R487P) amino acid ...
    www.genome.jp/dbget-bin/www_bget?omim+190181
  • BioMed Central | Full text | An integrated approach to the ...
    The mutations listed as pathogenic deviations (R487P, M318R and D400G) in the server for ... and skeletal development caused by mutations in TGFBR1 or TGFBR2. ...
    www.biomedcentral.com/1471-2105/10/S8/S5
  • 3-М синдромНаследственные заболевания зрительного нерваОбзор ...
    Congenital Disorders of Glycosylation Overview [CDG Syndromes, Carbohydrate-Deficient Glycoprotein Syndromes]
    genetics.rusmedserv.com/refer/article_77.html
  • 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 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Newsletter de Lípidos & Ateroesclerosis
    Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and widespread vascular disease. ... in association with type I (R487P in TGFBR1 and R528C and R528H in ...
    e-medicum.com/newsletters/lipidosAteroesclerosis/...
  • Marfan syndroom
    R487P* R487P. D400G. 8. 9. F234L. R487W. S241L (X2) TGFBR2. TGFBR1. C533R ... A527V. TGFBR1 and 2. Vergeet de UVULA niet ! Differentiaal diagnose Marfan syndroom ...
    vwvj.be/goto.php?id=d07e70efcfab08731a97e7b91be644de&type...
  • Defects of cell surface proteins
    R487P. R495X. E519K. Transforming growth factor beta receptor 1 and 2 ... Loeys-Dietz Syndrome (TGFBR1/2) Vascular EDS (COL3A1, TGFBR1/2) Arterial Tortuosity ...
    beshg.be/.../PostgraduateCourse_Day3_Part5.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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