loading...| Preferred Name |
FGFR3c P250R mutant binds to ligand with enhanced affinity |
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| Synonyms |
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| Definitions |
has a Stoichiometric coefficient of 2 FGFR3 P350R is associated with the development of Muenke syndrome, a milder craniosynostotic condition than Apert Syndrome (Bellus, 1996; Reardon, 1997). This mutation, which falls in the highly conserved Ser-Pro dipeptide in the IgII-IgIII linker, has been shown to increase the affinity of the receptor for its natural ligands, particularly for FGF9 (Ibrahimi, 2004a), without expanding the ligand-binding range of the receptor. This difference, compared to the paralogous FGFR2 S252W and P253R mutations, which bind an expanded range of ligands, is thought to account for the milder phenotype of Muenke Syndrome (Yu, 2000; Ibrahimi, 2004a, b). Edited: Rothfels, K, 2012-05-16 Authored: Rothfels, K, 2012-02-09 Reviewed: Ezzat, S, 2012-05-15 |
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| ID |
http://purl.obolibrary.org/obo/HINO_0008101 |
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| comment |
has a Stoichiometric coefficient of 2 FGFR3 P350R is associated with the development of Muenke syndrome, a milder craniosynostotic condition than Apert Syndrome (Bellus, 1996; Reardon, 1997). This mutation, which falls in the highly conserved Ser-Pro dipeptide in the IgII-IgIII linker, has been shown to increase the affinity of the receptor for its natural ligands, particularly for FGF9 (Ibrahimi, 2004a), without expanding the ligand-binding range of the receptor. This difference, compared to the paralogous FGFR2 S252W and P253R mutations, which bind an expanded range of ligands, is thought to account for the milder phenotype of Muenke Syndrome (Yu, 2000; Ibrahimi, 2004a, b). Edited: Rothfels, K, 2012-05-16 Authored: Rothfels, K, 2012-02-09 Reviewed: Ezzat, S, 2012-05-15 |
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| definition source |
Pubmed8841188 Pubmed9279753 Reactome, http://www.reactome.org Pubmed11121055 Pubmed15282208 Pubmed14613973 |
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| has input |
http://purl.obolibrary.org/obo/UniProt_P22607-1 |
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| has output | ||
| label |
FGFR3c P250R mutant binds to ligand with enhanced affinity |
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| prefixIRI |
HINO:0008101 |
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| prefLabel |
FGFR3c P250R mutant binds to ligand with enhanced affinity |
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| seeAlso |
Reactome Database ID Release 432012074 ReactomeREACT_121378 |
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