TGFBR1 R487Q - GET-Evidence

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

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Curation:
Currentness:

TGFBR1 R487Q

(TGFBR1 Arg487Gln)


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: 0.999 (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 ...
    content.nejm.org/cgi/reprint/355/8/788.pdf
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?omim+190181
  • 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 ...
    fkserv.ugent.be/vbk/bestanden/33/bestand147.pdf
  • 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%
    ... 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 ...
    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 ... S241L mutation in TGFBR1 and three patients with the R487Q mutation in TGFBR1. ...
    e-medicum.com/newsletters/lipidosAteroesclerosis/...
  • 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 ...
    vwvj.be/goto.php?id=d07e70efcfab08731a97e7b91be644de&type...
  • 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 ...
    beshg.be/.../PostgraduateCourse_Day3_Part5.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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