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. Author manuscript; available in PMC: 2006 Sep 28.
Published in final edited form as: J Biol Chem. 2002 Dec 23;278(10):8780–8785. doi: 10.1074/jbc.M208120200

Fig. 1. TBX5 missense mutations identified in patients with Holt-Oram syndrome.

Fig. 1

Among more than 20 TBX5 mutations, Q49K, I54T, G80R, G169R, R237Q, R237W, and S252I represent missense mutations identified in patients with Holt-Oram syndrome. TBX5 consists of 9 exons with exons 3–7 encoding the T-domain responsible for DNA binding. Note that two mutations (Q49K and I54T) are in the N terminus, four mutations (G80R, G169R, R237Q, and R237W) are within the T-box domain, and one mutation (S252I) is in the C terminus.