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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 Pfeiffer 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".

Pfeiffer Syndrome Mutations and Variations

Gene Nucleotide
Change		 Amino Acid
Change		 Type Further Details Reference
FGFR2 1019A>G Y340C  Missense  view Cornejo-Roldan, 1999
FGFR2 1021A>C T341P  Missense  view Rutland, 1995
FGFR2 1021A>C T341P  Missense  view Rutland, 1995
FGFR2 1024T>C C342R  Missense  view Reardon, 1994
FGFR2 1024T>C C342R  Missense  view Reardon, 1994
FGFR2 1024T>C C342R  Missense  view Reardon, 1994
FGFR2 1024T>C C342R  Missense  view Reardon, 1994
FGFR2 1024T>C C342R  Missense  view Reardon, 1994
FGFR2 1024T>C C342R  Missense  view Reardon, 1994
FGFR2 1024T>C C342R  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>C C342S  Missense  view Gorry, 1995
FGFR2 1025T>A C342S  Missence  view Park, 1995
FGFR2 1030G>C A344P  Missence  view Meyers, 1996
FGFR2 1052C>G S351C  Missense  view Oldridge, 1999
FGFR2 1075G>T V359F  Missence  view Meyers, 1996
FGFR2 1075G>T V359F  Missence  view Meyers, 1996
FGFR2 1075G>T V359F  Missence  view Meyers, 1996
FGFR2 1084insTCAACA G345-P361  Insertion  view Meyers, 1996
FGFR2 1084insTCAACA G345-P361  Insertion  view Meyers, 1996
FGFR2 1084insTCAACA G345-P361  Insertion  view Meyers, 1996
FGFR2 1124A>G Y375C  Missense  view Przylepa, 1996
FGFR2 1694A>G E565G  Missense  view Kan Sh, 2002
FGFR2 1694A>G E565G  Missense  view Kan Sh, 2002
FGFR2 1694A>G E565G  Missense  view Kan Sh, 2002
FGFR2 1694A>G E565G  Missense  view Kan Sh, 2002
FGFR2 1694A>G E565G  Missense  view Kan Sh, 2002
FGFR2 1922A>G K641R  Missense  view Kan Sh, 2002
FGFR2 1922A>G K641R  Missense  view Kan Sh, 2002
FGFR2 1922A>G K641R  Missense  view Kan Sh, 2002
FGFR2 1988G>A G663E  Missense  view Kan Sh, 2002
FGFR2 514_515GC>TT A172F  Missense  view Kan Sh, 2002
FGFR2 514_515GC>TT A172F  Missense  view Kan Sh, 2002
FGFR2 514_515GC>TT A172F  Missense  view Kan Sh, 2002
FGFR2 755_757CGC>TCT S252L;P253S  Missense  view Oldridge, 1997
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 866A>C Q289P  Missense  view Schaefer, 1998
FGFR2 866A>C Q289P  Missense  view Oldridge, 1995
FGFR2 870G>C W290C  Missence  view Przylepa, 1997
FGFR2 870G>T W290C  Missense  view Schaefer, 1998
FGFR2 870G>T W290C  Missense  view Schaefer, 1998
FGFR2 870G>T W290C  Missense  view Schaefer, 1998
FGFR2 870G>T W290C  Missense  view Schaefer, 1998
FGFR2 940-1G>A     view Cornejo-Roldan, 1999
FGFR2 940-2A>G     view Lajeunie, 1995
FGFR2 940-2A>G     view Lajeunie, 1995
FGFR2 940-2A>T     view Anderson, 1998
FGFR2 940G>T (A314S)  Missense  view Schell, 1995

Last Updated: 11/24/03

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