145 Ventriculomegaly and TH | Crouzon Supplemental Digital Content - Table 1. Genetic changes present in this cohort of Crouzon patients. FGFR Nucleotide Change Protein Change n FGFR1 c.755C>G Pro252Arg 2 FGFR2 c.314A>G Tyr105Cys 4 FGFR2 c.799T>C Ser267Pro 5 FGFR2 c.812G>T Gly271Val 1 FGFR2 c.826T>C Phe276Val 2 FGFR2 c.833G>T Cys278Phe 3 FGFR2 c.962A>T Asp321Val 1 FGFR2 c.866A>C Gln289Pro 2 FGFR2 c.868T>C Trp290Arg 4 FGFR2 c.870G>C Trp290Cys 1 FGFR2 c.979C>G Leu372Val 1 FGFR2 c.1012G>C Gly338Arg 1 FGFR2 c.1018T>C Tyr340His 1 FGFR2 c.1019A>C Tyr340Ser 1 FGFR2 c.1024T>A Cys342Ser 3 FGFR2 c.1024T>C Cys342Arg 2 FGFR2 c.1025G>A exon 9 1 FGFR2 c.1026C>G Cys342Trp 4 FGFR2 c.1032G>A Ala344Ala(Splicing) 2 FGFR2 c.1040C>G Ser347Cys 1 FGFR2 c.1061C>G Ser354Cys 3 FGFR2 c.1069T>G Leu357Val 1 FGFR2 c.1084+3A>G Pro361Pro(Splicing) 1 FGFR2 c.1084G>A Ala362Thr 1 FGFR2 c.1087+1304G>A Cys342Tyr 8 FGFR2 c.1636G>A Cys342Tyr 1 FGFR2 c.1694A>G Glu565Gly 2 FGFR2 c.1851G>C Leu617Phe 1 FGFR2 c.1922A>G Lys641Arg 1 FGFR3 c.1172C>A Ala391Glu 2 Total 63 Nucleotide changes and protein changes that were present in the FGFR1, FGFR2, and FGFR3 genes in our cohort of Crouzon patients. FGFR: fibroblast growth factor receptor; A: Adenine; G: Guanine; C: Cytosine; T: Thymine; Pro: Proline; Arg: Arginine; Tyr: Tyrosine; Cys: Cysteine; Ser: Serine; Gly: Glycine; Val: Valine; Phenylalanine; Asp: Aspartic Acid; Gln: Glutamine; Trp: Tryptophan; Leu: Leucine; His: Histidine; Ala: Alanine; Thr: Threonine; Glu: Glutamic Acid. Values represent absolute number of patients. 8
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