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

From: A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head

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]
  1. The variants shown are described using the NM_001844.4 transcript reference sequence
  2. Bold indicates COL2A1 mutation found in this study