Table 1.
Experimentally determined variation of the human GAS1 gene
| GAS1 variant
|
RAF in patients (Na = 896) |
RAF in control (Nb = 192) |
Loss of SHH-GAS1 binding affinity | Reference | |
|---|---|---|---|---|---|
| Position | Change | ||||
| c.16C > G | p.Leu6Val | 0.11% (1) | – | ND | This study |
| c.96C > G | p.Gly32Gly | 0.11% (1) | – | ND | This study |
| c.133C > G | p.Arg45Gly | 0.11% (1) | – | ~20% | This study |
| c.264C > Tc | p.Ala88Ala | 3.57% (32) | 0.52% (1) | ND | This study |
| c.482G > A | p.Gly161Asp | – | 0.52% (1) | ND | This study |
| c.599C > G | p.Thr200Arg | 0.11% (1) | – | ~95% | Ribeiro et al. (2010) |
| c.660C > G | p.Asn220Lys | 0.11% (1) | – | 20–25% | This study |
| c.736G > T | p.Ala246Ser | 0.11% (1) | – | 0% | Ribeiro et al. (2010) |
| c.741G > A | p.Glu247Glu | 0.11% (1) | – | ND | This study |
| c.775G > A | p.Gly259Argd | 0.11% (1) | – | ~10%d | Ribeiro et al. (2010) |
| c.808G > T | p.Asp270Tyr | 0.11% (1) | – | 5–10% | Ribeiro et al. (2010) |
| c.825C > A | p.Thr275Thr | 0.11% (1) | – | ND | This study |
| c.831C > G | p.Gly277Gly | 0.11% (1) | – | ND | Ribeiro et al. (2010) |
| c.840T > G | p.Gly280Gly | 0.11% (1) | – | ND | Ribeiro et al. (2010) |
| c.863A > G | p.Asp288Gly | 0.11% (1) | – | 15–20% | Ribeiro et al. (2010) |
| c.882G > A | p.Pro294Pro | 0.11% (1) | – | ND | Ribeiro et al. (2010) |
| c.927G > C | p.Leu309Leu | – | 0.52% (1) | ND | This study |
| c.928C > T | p.Pro310Ser | 0.11% (1) | – | NDe | This study |
| c.958G > T | p.Gly320Cys | 0.11% (1) | – | 0% | This study |
| c.960C > G | p.Gly320Gly | 0.11% (1) | – | ND | Ribeiro et al. (2010) |
| c.1038*46T > C | NA | – | 0.52% (1) | ND | This study |
RAF Rare allele frequency
a
Total number of chromosomes analyzed to determine the RAF including the patients in this study (394) and the patients of the Brazilian study (Ribeiro et al. 2010) (54)
b
Total number of control chromosomes analyzed to determine the RAF
c
This was reported in the Brazilian study (Ribeiro et al. 2010) as c.260C > T
d
c.775G > A was reported in the Brazilian study (Ribeiro et al. 2010) as p.Gly259Gln (5–10% loss-of-affinity in the SHH-N-AP surface biding assay—Fig. 2a), but the described nucleotide variation corresponds to p.Gly259Arg
e
Variant did not propagate in E. coli, therefore, it was not tested in the binding assay