Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome

Figure 5

Conservation analysis of nonsynonymous mutation in TBX1 found in the ENU706 mutant mouse. (a) The ENU706 mutation caused a W118R conversion. F148Y, H194Q, and G310S mutations, previously reported in DGS patients, are also indicated [24]. (b) The W118 is highly conserved across the species. The protein NCBI IDs, NP_035662.1 (M. musculus), NP_542377.1 (H. sapiens), XP_016795078.1 (P. troglodytes), XP_015005141.1 (M. mulatta), NP_001101792.1 (R. norvegicus), XP_002694701.2 (B. taurus), XP_015131167.1 (G. gallus), and NP_899182.1 (D. rerio). (c) The Trp amino acid is also highly conserved in 5 TBX paralogues. The protein NCBI IDs, NP_542377.1 (Tbx1), NP_005985.3 (Tbx2), NP_005987.3 (Tbx3), NP_001308049.1 (Tbx4), and NP_000183.2 (Tbx5). refers to the W118 in (b) and Trp amino acid in (c).

(a)

(b)

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