FGFR3 K650M - GET-Evidence

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

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Curation:
Currentness:

FGFR3 K650M

(FGFR3 Lys650Met)


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 FGFR3 gene
    Achondroplasia
    Crouzon Syndrome with Acanthosis Nigricans
    FGFR-Related Craniosynostosis
    FGFR3-Related Craniosynostosis
    FGFR3-Related Isolated Coronal Synostosis
    Hypochondroplasia
    Lacrimo-Auriculo-Dento-Digital Syndrome
    Muenke Syndrome
    Severe Achondroplasia with Developmental Delay and Acanthosis Ni
    Thanatophoric Dysplasia
    Thanatophoric Dysplasia Type I
    Thanatophoric Dysplasia Type II
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGFR3
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (150 hits -- see all)
  • FGFR3 - fibroblast growth factor receptor 3 - Genetics Home ...
    What is the official name of the FGFR3 gene? The official name of this gene is " ... The FGFR3 protein spans the cell membrane, so that one end of the protein ...
    ghr.nlm.nih.gov/gene=fgfr3
  • PLoS ONE: Analysis of STAT1 Activation by Six FGFR3 Mutants ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... N540K, G380R, R248C, Y373C, K650M and K650E-FGFR3 mutants associated with skeletal ...
    plosone.org/article/info:doi/10.1371/journal.pone.0003961
  • Analysis of STAT1 activation by six FGFR3 mutants associated ...
    Activating mutations in FGFR3 tyrosine kinase cause several forms of ... In a cell-free kinase assay, only K650M and K650E-FGFR3 caused activatory STAT1(Y701) phosphorylation. ...
    www.ncbi.nlm.nih.gov/pubmed/19088846
  • Highly activated Fgfr3 with the K644M mutation causes ...
    Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf ... A novel mutation in FGFR3, A1949T:K650M, has been reported in four ...
    hmg.oxfordjournals.org/cgi/content/full/10/12/1255
  • Achondroplasia -- GeneReviews -- NCBI Bookshelf
    An FGFR3 K650M mutation has been identified in all three individuals ... Normal allelic variants: The FGFR3 cDNA was originally isolated in the search for the ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&...
  • PLoS ONE : accelerating the publication of peer-reviewed science
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... Y373C, K650M and K650E-FGFR3 mutants used in this study all cause FGFR3-skeletal ...
    plosone.org/article/slideshow.action?uri=info:doi/...
  • Highly activated Fgfr3 with the K644M mutation causes ...
    To find out whether the K650M mutation also causes the SADDAN phenotype, we introduced the corresponding point mutation (K644M) into the mouse Fgfr3 gene. ...
    hmg.oxfordjournals.org/cgi/content/abstract/10/12/1255
  • Catalogue of Somatic Mutations in Cancer
    p.R248C. E22507. FGFR3. p.R248C. E22508. FGFR3. p.R248C. E22509. FGFR3 ... p.K650M. E22668. FGFR3. p.K650M. Samples without Mutations ? E22383. E22384. E22385. E22386 ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=7891
  • Catalogue of Somatic Mutations in Cancer
    Somatic FGFR3 and PIK3CA mutations are present in familial seborrhoeic keratoses. ... p.K650M. 1176713. FGFR3. p.R248C. Samples without Mutations ? 1176709 ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&pmid=18503601
  • McGraw-Hill Professional Books
    FGFR3 has two splice forms depending on which of two alternative ... tyrosine kinase domain of FGFR3. The SADDAN phenotype is caused by K650M substitutions. ...
    books.mcgraw-hill.com/getommbid.php?...&c=210

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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