Table 2 Gene mutation analysis. It shows a missense mutation of the 1259th nucleotide C being replaced with T, and it causes the mutation of the 420th amino acid, Thr (thyrosine), being substituted with isoleucine
From: Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
Exon# | Chr start# | cDNA change | Amino acid change | Mutation type/effect |
|---|---|---|---|---|
3 | 45,390,511 | c.240G>A | p.Ala80= | (Het) SNP (rs6921145) |
9 | 45,514,735 | c.1259C>T | pTh420Ile | (Het) mutation (HGMD) |