Figure 1
Figure 1. Patterns and locations of the 68 RUNX1 mutations, including 63 distinct and 5 insignificant mutations. Four kinds of mutations were demonstrated: missense mutations, nonsense mutations, frameshift mutations, and in-frame mutations. Three kinds of frameshift mutations are noted: truncated mutations with defective RHD, truncated mutations with intact RHD, and elongated mutations with intact RHD. The numbering of nucleotide of transcript is according to the mRNA sequence from GenBank42 accession number D43968 (AML1b); on the other hand, the numbering of amino acid of protein is according to the amino acid sequence from GenBank accession number Q01196. G42R, D317N, Q370R, V425G, and M439L are insignificant mutations. ▴ and | represent the sites of mutation; X, the site of the stop codon; Ω, the site of insertion; and (hyphenated line), the site of deletion. RD indicates repression domain; E, exon; I, intron; nt, nucleotide; UTR, untranslated region; and a.a., amino acid.

Patterns and locations of the 68 RUNX1 mutations, including 63 distinct and 5 insignificant mutations. Four kinds of mutations were demonstrated: missense mutations, nonsense mutations, frameshift mutations, and in-frame mutations. Three kinds of frameshift mutations are noted: truncated mutations with defective RHD, truncated mutations with intact RHD, and elongated mutations with intact RHD. The numbering of nucleotide of transcript is according to the mRNA sequence from GenBank42  accession number D43968 (AML1b); on the other hand, the numbering of amino acid of protein is according to the amino acid sequence from GenBank accession number Q01196. G42R, D317N, Q370R, V425G, and M439L are insignificant mutations. ▴ and | represent the sites of mutation; X, the site of the stop codon; Ω, the site of insertion; and (hyphenated line), the site of deletion. RD indicates repression domain; E, exon; I, intron; nt, nucleotide; UTR, untranslated region; and a.a., amino acid.

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