Figure 1
Seventy-one mutations in 55 of 355 persons were identified by NGS and mapped to the TET2 coding region. Mutations were identified that existed at ≥ 10% relative mutation abundance (RMA). These were mapped against TET2 translated exons 3-11 (NM.001127208; 2002 amino acids). Classification of mutations is indicated in the figure key and includes nonsense or insertion/deletion mutations (Indels), nonsynonymous amino acid changes, and splice-site mutations, indicated by orange, blue, and pink bars, respectively. Mutation level is also defined as > or ≤ 25% RMA, indicated by the solid or stippled bars, respectively. Regions conserved across the TET protein family, and implicated in the conversion of 5′ methylcytosine to 5′ methylhydroxycytosine (5-hmC), are shown (cons'd regions 1 and 2) and correspond to amino acids 1104-1478 and 1845-2002, respectively ([11] [18]).

Seventy-one mutations in 55 of 355 persons were identified by NGS and mapped to the TET2 coding region. Mutations were identified that existed at ≥ 10% relative mutation abundance (RMA). These were mapped against TET2 translated exons 3-11 (NM.001127208; 2002 amino acids). Classification of mutations is indicated in the figure key and includes nonsense or insertion/deletion mutations (Indels), nonsynonymous amino acid changes, and splice-site mutations, indicated by orange, blue, and pink bars, respectively. Mutation level is also defined as > or ≤ 25% RMA, indicated by the solid or stippled bars, respectively. Regions conserved across the TET protein family, and implicated in the conversion of 5′ methylcytosine to 5′ methylhydroxycytosine (5-hmC), are shown (cons'd regions 1 and 2) and correspond to amino acids 1104-1478 and 1845-2002, respectively ([11] [18]).

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