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 | UniProt | Comment | Textmining |
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Homo sapiens | P21802 | - |
- |
Synonyms | Comment | Organism |
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fibroblast growth factor receptor 2 | - |
Homo sapiens |