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Literature summary for 2.7.10.1 extracted from

  • Oldridge, M.; Lunt, P.W.; Zackai, E.H.; McDonald-McGinn, D.M.; Muenke, M.; Moloney, D.M.; Twigg, S.R.; Heath, J.K.; Howard, T.D.; Hoganson, G.; Gagnon, D.M.; Jabs, E.W.; Wilkie, A.O.
    Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2 (1997), Hum. Mol. Genet., 6, 137-143.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information Apert syndrome is characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide, either Ser252Trp or Pro253Arg, in the linker between the IgII and IgIII extracellular immunoglobulin-like domains. A C to T mutation that predicts a Ser252Leu substitution, ascertained in a boy with mild Crouzon syndrome is also present in three clinically normal members of his family. A CG to TT mutation that predicts a Ser252Phe substitution results in a phenotype consistent with Apert syndrome. Finally, a CGC to TCT mutation that predicts a double amino acid substitution, Ser252Phe and Pro253Ser, causes a Pfeiffer syndrome variant with mild craniosynostosis, broad thumbs and big toes, fixed extension of several digits, and only minimal cutaneous syndactyly Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P21802
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Synonyms

Synonyms Comment Organism
fibroblast growth factor receptor 2
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Homo sapiens