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Scientist: Research Projects: Human Craniofacial Mutation and Variation Database

The table below lists some of the mutations found in the human craniofacial condition Crouzon Syndrome. The table gives information on the mutant gene, nucleotide change, amino acid change, type of mutation, and published reference. For more details on each mutation click on "view".

Crouzon Syndrome Mutations and Variations

Gene Nucleotide
Change		 Amino Acid
Change		 Type Further Details Reference
FGFR2 1012G>C G338R  Missense  view Gorry, 1995
FGFR2 1018T>C Y340H  Missense  view Reardon, 1994
FGFR2 1020T>C Y340H  Missense  view Jabs, 1994
FGFR2 1020T>C Y340H  Missense  view Jabs, 1994
FGFR2 1020T>C Y340H  Missense  view Jabs, 1994
FGFR2 1020T>C Y340H  Missense  view Jabs, 1994
FGFR2 1020T>C Y340H  Missense  view Jabs, 1994
FGFR2 1020T>C Y340H  Missense  view Jabs, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>A C342Y  Missense  view Reardon, 1994
FGFR2 1025G>C C342S  Missense  view Gorry, 1995
FGFR2 1025G>C C342S  Missense  view Gorry, 1995
FGFR2 1025G>T C342F  Missense  view Oldridge, 1995
FGFR2 1025G>T C342F  Missense  view Oldridge, 1995
FGFR2 1026C>G C342W  Missense  view Park, 1995
FGFR2 1026C>G C342W  Missense  view Park, 1995
FGFR2 1026C>G C342W  Missense  view Park, 1995
FGFR2 1026C>G C342W  Missense  view Park, 1995
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1040C>G S347C  Missense  view Jabs, 1994
FGFR2 1040C>G S347C  Missense  view Jabs, 1994
FGFR2 1040C>G S347C  Missense  view Jabs, 1994
FGFR2 1040C>G S347C  Missense  view Jabs, 1994
FGFR2 1052C>G S351C  Missense  view Oldridge, 1999
FGFR2 1052C>G S351C  Missense  view Oldridge, 1999
FGFR2 1061C>G S354C  Missense  view Reardon, 1994
FGFR2 1061C>G S354C  Missense  view Reardon, 1994
FGFR2 1061C>G S354C  Missense  view Reardon, 1994
FGFR2 1645A>C N549H  Missense  view Kan Sh, 2002
FGFR2 1645A>C N549H  Missense  view Kan Sh, 2002
FGFR2 2032A>G R678G  Missense  view Kan Sh, 2002
FGFR2 314A>G Y105C  Missense  view Pulleyn, 1996
FGFR2 755C>T S252L  Missense  view Oldridge, 1997
FGFR2 799T>C S267P  Missense  view Oldridge, 1995
FGFR2 803_804insTGG T268TG  Insertion  view Meyers, 1996
FGFR2 803_804insTGG T268TG  Insertion  view Meyers, 1996
FGFR2 826G>T F276V  Missense  view Steinberger, 1998
FGFR2 833G>T C278F  Missense  view Oldridge, 1995
FGFR2 833G>T C278F  Missense  view Oldridge, 1995
FGFR2 833G>T C278F  Missense  view Oldridge, 1995
FGFR2 833G>T C278F  Missense  view Oldridge, 1995
FGFR2 833G>T C278F  Missense  view Oldridge, 1995
FGFR2 833G>T C278F  Missense  view Oldridge, 1995
FGFR2 833G>T C278F  Missense  view Oldridge, 1995
FGFR2 842A>G Y281C  Missense  view Kan Sh, 2002
FGFR2 866A>C Q289P  Missense  view Oldridge, 1995
FGFR2 866A>C Q289P  Missense  view Schaefer, 1998
FGFR2 868T>G W290G  Missence  view Park, 1995
FGFR2 868T>G W290G  Missence  view Park, 1995
FGFR2 983A>G Y328C  Missence  view Jabs, 1994
FGFR2 983A>G Y328C  Missence  view Jabs, 1994
FGFR2 983A>G Y328C  Missence  view Jabs, 1994

Last Updated: 11/24/03

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