TGFBR1 S241L - GET-Evidence

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

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Curation:
Currentness:

TGFBR1 S241L

(TGFBR1 Ser241Leu)


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)
  • OMIM: 190181
    Two major TGFBR1 haplotypes are predominant among ASE cases, which suggested ... heterozygous missense mutation, ser241 to leu (S241L), in the TGFBR1 gene. ...
    www.genome.jp/dbget-bin/www_bget?omim+190181
  • 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 TGFBR2 and the S241L mutation in TGFBR1. and three patients with ...
    content.nejm.org/cgi/reprint/355/8/788.pdf
  • NEJM -- Aneurysm Syndromes Caused by Mutations in the TGF ...
    Results We found a mutation in TGFBR1 or TGFBR2 in all probands with typical ... S241L mutation in TGFBR1 and three patients with the R487Q mutation in TGFBR1. ...
    content.nejm.org/cgi/content/full/355/8/788
  • PROCEEDINGS OFTHE GREENWOODGENETICCENTER
    caused by mutations in TGFBR1 and TGFBR2 (transforming growth factor ... p.S241L. Echocardiography demonstrated a. dilated aortic root and tortuous aortic arch and ...
    www.ggc.org/images/Proceedings-2009.pdf
  • Monogenic disorders: from gene to therapy
    4 families: TGFBR1 mutation identified. Wieser et al. EMBO Journal, 1995. T200D. Up to date, ... S241L (X2) TGFBR2. C533R. C533F. N384S. A350E. N=52. N478S. M457K. G374E ...
    fkserv.ugent.be/vbk/bestanden/33/bestand147.pdf
  • Clinical Phenotypes Associated with Mutations in TGFBR1 and ...
    Clinical Phenotypes Associated with Mutations in TGFBR1 and TGFBR2 genes ... and in whom an identical de novo TGFBR1 mutation, p.S241L, was found. ...
    www.ichg2006.com/abstract/1279.htm
  • Newsletter de Lípidos & Ateroesclerosis
    Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and widespread vascular disease. ... S241L mutation in TGFBR1 and three patients with the R487Q mutation ...
    e-medicum.com/newsletters/lipidosAteroesclerosis/...
  • Marfan syndroom
    S241L (X2) TGFBR2. TGFBR1. C533R. C533F. N384S. A350E. N=50. N478S. M457K ... A527V. TGFBR1 and 2. Vergeet de UVULA niet ! Differentiaal diagnose Marfan syndroom ...
    vwvj.be/goto.php?id=d07e70efcfab08731a97e7b91be644de&type...
  • Defects of cell surface proteins
    S241L (X2) TGFBR2. C533R. C533F. N384S. A350E. N478S. M457K. G374E. M318R ... Loeys-Dietz Syndrome (TGFBR1/2) Vascular EDS (COL3A1, TGFBR1/2) Arterial Tortuosity ...
    beshg.be/.../PostgraduateCourse_Day3_Part5.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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