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. 2015 Mar 6;5:8848. doi: 10.1038/srep08848

Figure 1. NKX2-5 Mutations.

Figure 1

The figure represents the different functional domains of the NKX2-5 protein with all previously published mutations overlaid. Single Nucleotide Variants (SNVs) are shown below the protein domains, and truncating insertions and deletions or nonsense mutations are shown above the protein. Bold and colored indicates variants reported in the current study, with green indicating variants in the control group and red indicating variants in CHD patients. Underlined variants refer to familial segregation, and italicized variants indicate a sporadic report of the variant in a case. Tin:Tinman Domain, YRD: tyrosine rich domain.