FGFR3 N540S - GET-Evidence

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

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Curation:
Currentness:

FGFR3 N540S

(FGFR3 Asn540Ser)


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: 0.998 (probably damaging)
    Web search results (29 hits -- see all)
  • Hypochondroplasia -- GeneReviews -- NCBI Bookshelf
    FGFR3 is the only gene known to be associated with hypochondroplasia; however, genetic ... of FGFR3 exons 9, 10, 13, and 15 detects other rare FGFR3 mutations that account for ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&...
  • European Journal of Human Genetics - Novel FGFR3 mutations ...
    Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the ... of the remaining patients harboured the N540S or I538V substitutions. ...
    www.nature.com/ejhg/journal/v14/n12/full/5201700a.html
  • Sequence survey of receptor tyrosine kinases reveals ...
    ... mutations of the same residue in FGFR3 to different amino acid residues have also been associated with HCH; these mutations are N540T (27) and N540S (28) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1242336
  • Daters thesis
    Thesis on the subject of dwarfism,and mutative Gene structure of FGFR3 Science Genetics science
    www.scribd.com/doc/915058/Daters-thesis
  • FGFR3
    The sites frequently mutated (G380R and N540K) of the FGFR3 gene of seventeen ... The mutations at codons 380 and 540 of the FGFR3 gene were also found to be ...
    www.kslm.org/sub/down.php?Year=2001&pagee=164
  • Mendelian Inheritance in Man Document Reader
    Fgfr3 also induced complete growth arrest, whereas the delta-AB isoform induced ... of the human FGFR3 gene is nearly identical to that of the mouse Fgfr3 gene. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+134934
  • presenting symptom 1 micromelia [Mode de compatibilité]
    FGFR3 mutations in chondrodysplasia. • FGFR3 : 4p16. • Récepteurs à tyrosine kinase ... N540S. N540T. I538V. Q485R. N328C. S351C. E360K. N328I. G380K. V381H. HCH. Legend. HCH : ...
    www.ior.it/Allegati/d7750bb9-4e92-4804-a0f1-7f25cc1dd00b.pdf
  • Diagnostic of hereditary deseases - LabGenetics
    Mutation screening of G1138A , G1138C and G375C in the FGFR3 gene ... screening of I538V, N540T, N540S, N540K, K650N, K650M, K650Q in the FGFR3 gene ...
    labgenetics.com.es/en/catalogo_enfermedades_hereditarias.htm
  • Lääketieteellinen genetiikka - Lääketieteellinen tiedekunta ...
    Fibroblastikasvutekijäreseptorigeeni 3 (FGFR3) sijaitsee kromosomin 4 lyhyessä ... on osoitettu muita FGFR3-geenin mutaatioita: N328I, I538V N540S, N540T, K650N ja ...
    med.utu.fi/genetiikka/.../dna-tutkimukset/?id=98
  • Revista médica de Chile - Mutaciones del gen del receptor 3 ...
    Con el hallazgo de mutaciones en FGFR3 en pacientes con diagnóstico clínico de ... FGFR3, y en familias aisladas se han descrito las mutaciones I538V, N540T, N328I y N540S. ...
    scielo.cl/scielo.php?...&lng=pt&nrm=iso&tlng=es

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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