Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.7.10.1 extracted from

  • Rousseau, F.; el Ghouzzi, V.; Delezoide, A.L.; Legeai-Mallet, L.; Le Merrer, M.; Munnich, A.; Bonaventure, J.
    Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) (1996), Hum. Mol. Genet., 5, 509-512.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced thoracic cavity. Identification of FGFR3 mutations in 25 of 26 thanatophoric dwarfism cases. Two novel missense mutations, Y373C and G370C, are detected in 8/26 and 1/26 thanatophoric dwarfism 1 cases respectively. Both mutations create cysteine residues in the juxta extramembrane domain of the receptor. Sixteen cases carry the previously reported R248C mutation - 9/26 cases, S249C - 2/26 cases, or stop codon FGFR3 mutations, 5/26 cases Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
membrane transmembrane protein Homo sapiens 16020
-
additional information two alternative exons, IIIb and IIIc, encode the C-terminal half of Ig domain 3. The alternative splicing choice between IIIb and IIIc exons of the FGFR-3 is not strictly tissue-specific: epithelial cells show exclusively IIIb transcripts while fibroblastic cells show a mixture of IIIb and IIIc transcripts Homo sapiens
-
-

Organism

Organism UniProt Comment Textmining
Homo sapiens P22607
-
-

Synonyms

Synonyms Comment Organism
fibroblast growth factor receptor 3
-
Homo sapiens