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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 Jackson-Weiss 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".

Jackson-Weiss Syndrome Mutations and Variations

Gene Nucleotide
Change		 Amino Acid
Change		 Type Further Details Reference
FGFR2 1024T>C C342R  Missense  view Reardon, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 1031C>G A344G  Missence  view Jabs, 1994
FGFR2 866A>C Q289P  Missense  view Oldridge, 1995
FGFR2 866A>C Q289P  Missense  view Schaefer, 1998

Last Updated: 11/24/03

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