Table 2 COL2A1 mutations have been identified in patients with familial ANFH

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]