Table 2.
COL2A1 mutations have been identified in patients with familial ANFH
| Protein | cDNA | Region | Race | References |
|---|---|---|---|---|
| p.Gly582Ser | c.1744G > A | Gly-X–Y | Japanese | Kishiya et al. [19] |
| p.Gly630Ser | c.1888G > A | Gly-X–Y | Chinese | Li et al. [10] |
| p.Gly717Ser | c.2149G > A | Gly-X–Y | Chinese | Liu et al. [8] |
| p.Gly1170Ser | c.3508G > A | Gly-X–Y | Chinese | Liu et al. [8, 9], Su et al. [11] and Wang et al. [13] |
| p.Gly1173Ser | c.3517G > A | Gly-X–Y | Chinese | The present study |
| p.Thr1383Met | c.4148G > A | C-propeptide | Unknown | Kannu et al. [12] |
The variants shown are described using the NM_001844.4 transcript reference sequence
Bold indicates COL2A1 mutation found in this study