From: Review of published 467 achondroplasia patients: clinical and mutational spectrum
References | cDNA | Nucleotide alteration | Protein | Percentage | allele frequencies |
---|---|---|---|---|---|
[5, 7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84] | c. 1138G > A or c. 1138G > C | glycine to arginine | p.Gly380Arg | 95.5% (446/467) | 4.79e-6 or 6.85e-7 |
c.1031C > G | serine to cysteine | p.Ser344Cys | 0.4% (2/467) | NA | |
c. 375G > T | glycine to cysteine | p.Gly375Cys | 0.6% (3/467) | 1.20e-6 | |
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 |
c.1043C > G | serine to cysteine | p.Ser348Cys | 0.4% (2/467) | NA | |
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 |