TGFBR1 R487W - GET-Evidence

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

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Curation:
Currentness:

TGFBR1 R487W

(TGFBR1 Arg487Trp)


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 (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 ...
    www.ashg.org/genetics/ashg07s/f21178.htm
  • 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. ...
    www.genome.jp/dbget-bin/www_bget?omim+190181
  • 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 ...
    content.nejm.org/cgi/reprint/355/8/788.pdf
  • 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 ...
    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%
    ... 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) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • 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 ...
    vwvj.be/goto.php?id=d07e70efcfab08731a97e7b91be644de&type...
  • 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 ...
    beshg.be/.../PostgraduateCourse_Day3_Part5.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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