Table 1.
FGFR3 mutations of ACH patients
| References | cDNA | Nucleotide alteration | Protein | Percentage | allele frequencies |
|---|---|---|---|---|---|
| [5, 7–84] |
c. 1138G > A or c. 1138G > C |
glycine to arginine | p.Gly380Arg |
95.5% (446/467) |
4.79e-6 or 6.85e-7 |
| [14, 89] | c.1031C > G | serine to cysteine | p.Ser344Cys | 0.4% (2/467) | NA |
| [16, 72] | c. 375G > T | glycine to cysteine | p.Gly375Cys |
0.6% (3/467) |
1.20e-6 |
| [47, 62] | c.833A > G | tyrosine to cysteine | p.Tyr278Cys |
0.4% (2/467) |
NA |
| [85] | c.831A > C | serine to cysteine | p.Ser279Cys |
0.2% (1/467) |
NA |
| [86] |
c.970_971 ins TCTCCT |
the insertion of Ser-Phe after position Leu324 | p.L324delinsLSF |
0.2% (1/467) |
NA |
| [87, 88] | c.1043C > G | serine to cysteine | p.Ser348Cys |
0.4% (2/467) |
NA |
| [90, 92] | c.649A > T | serine to cysteine | p.Ser217Cys |
1.3% (6/467) |
NA |
| [91] | c.1180A > T | threonine to serine | p.Thr394Ser |
0.9% (4/467) |
NA |