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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P22607 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
fibroblast growth factor receptor 3 | - |
Homo sapiens |