TGFBR1 T200I - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

TGFBR1 T200I

(TGFBR1 Thr200Ile)


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: 0.998 (probably damaging)
    Web search results (5 hits -- see all)
  • OMIM: 190181
    Two major TGFBR1 haplotypes are predominant among ASE cases, which ... the TGFBR1 gene that resulted in a thr200-to-ile (T200I) substitution at the junction of ...
    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
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Marfan syndroom
    TGFBR1 and 2. Vergeet de UVULA niet ! Differentiaal diagnose Marfan ... TGFBR1. of. 2. mutaties. Loeys-Dietz syndroom versus Shprintzen-Goldberg syndroom ...
    vwvj.be/goto.php?id=d07e70efcfab08731a97e7b91be644de&type...
  • Defects of cell surface proteins
    D524N. A329T. R537C. R537G. C520Y. L529F. R460H. Y448H. T200I. 1. 2. 3. 4. 5. 6 ... Loeys-Dietz Syndrome (TGFBR1/2) Vascular EDS (COL3A1, TGFBR1/2) Arterial Tortuosity ...
    beshg.be/.../PostgraduateCourse_Day3_Part5.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in