FGFR3 A391E - GET-Evidence

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

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Curation:
Currentness:

FGFR3 A391E

(FGFR3 Ala391Glu)


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: 0.002 (benign)
    Web search results (57 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
  • He L. Pathogenic activation of receptor tyrosine kinases in ...
    We address the effect of two such pathogenic mutations (V664E in Neu and A391E in fibroblast growth factor receptor 3 (FGFR3)) on re... J Mol Biol 384:1130 (2008) ...
    pubget.com/paper/18976668?...+in+mammalian+membranes.
  • OMIM: 612247
    ... Cohen (1999) noted that the FGFR3 A391E mutation is also associated with ... et al. (1995) identified the same heterozygous A391E mutation in the FGFR3 gene. ...
    www.genome.jp/dbget-bin/www_bget?omim+612247
  • FGF signaling in the developing endochondral skeleton
    in Fgfr3 (A391E) causes Crouzon syndrome with acanthosis. nigricans, now referred to as ... Left (Blue): Mutations in FGFR3 – achondroplasia (ACH), thanatophoric dysplasia ...
    molecool.wustl.edu/ornitzlab/PDFs/Ornitz,2005.pdf
  • Catalogue of Somatic Mutations in Cancer
    FGFR3. p.S249C. E22511. FGFR3. p.S249C. E22512. FGFR3. p.S249C. E22513. FGFR3 ... p.A391E. E22664. FGFR3. p.A391E. E22665. FGFR3. p.K650E. E22666. FGFR3. p.K650T. E22667. FGFR3. p. ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=7891
  • [Frontiers in Bioscience 10, 1961-1976, May 1, 2005]
    Science, global weekly of science ... FGFR3/TM: A391E. Acanthosis, nigricans. Jackson-Weiss syndrome (JWS) FGFR2/IgIIIc: A344G, C342S or R. Hands are usually normal. Foot ...
    www.bioscience.org/2005/v10/af/1671/tables.htm
  • Catalogue of Somatic Mutations in Cancer
    FGFR3. p.A391E. c.1172C>A. Reported in another cancer sample as somatic ... genetic alteration associated with FGFR3 mutations in superficial papillary ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...
  • Diversity and Function of Mutations in P450 Oxidoreductase in ...
    FGFR3 mutations, and 3 patients carried no mutations. The 34 affected ... zygous for FGFR3 mutation A391E. Patient 31 (STJ1), a 46,XY male identified as having. ABS ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • European Journal of Human Genetics - Mutation screening in ...
    In two Crouzon patients with acanthosis nigricans, the recurrent A391E FGFR3 mutation was identified. ... A similar situation exists in FGFR3-related skeletal dysplasias. ...
    www.nature.com/ejhg/journal/v14/n3/full/5201558a.html
  • Hackney-Norins Society
    Alfred L. Knable, Jr., M.D. William C. Lentz, M.D. Patrick C. Logan, ... K650M and A391E FGFR3 Mutations exhibit. discordant behavior in HaCaT cell proliferation ...
    www.medicine.iu.edu/documents/Dermatology/Spring 2005.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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