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Gene Symbol DNMT3A
Synonyms DNMT3A2 | HESJAS | M.HsaIIIA | TBRS
Gene Description DNMT3A, DNA methyltransferase 3 alpha, mediates DNA methylation and functions in modification of gene expression, and plays a role in hematopoietic differentiation (PMID: 28286768, PMID: 25693834). DNMT3A mutations are frequent in acute myeloid leukemia, and are recurrent in myelodysplastic syndromes (PMID: 28286768, PMID: 28003281).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
1788 2 2p23.3 NM_022552 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function DNMT3A act mut indicates that this variant results in a gain of function in the Dnmt3a protein. However, the specific amino acid change has not been identified.
E240fs frameshift loss of function - predicted DNMT3A E240fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 240 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). E240fs has not been characterized, however, due to the effects of other truncation mutations downstream of E240 (PMID: 28872462, PMID: 26595813, PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function.
E616fs frameshift loss of function DNMT3A E616fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 616 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). E616fs confers a loss of function to the Dnmt3a protein as demonstrated by failure to dimerize with wild-type Dnmt3a and loss of methyltransferase activity in in vitro assays (PMID: 28872462).
F731fs frameshift loss of function - predicted DNMT3A F731fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 731 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). F731fs has not been characterized, however, due to the effects of other truncation mutations downstream of F731 (PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function.
F751fs frameshift loss of function - predicted DNMT3A F751fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 751 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). F751fs has not been characterized, however, due to the effects of other truncation mutations downstream of F751 (PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function.
G590fs frameshift loss of function - predicted DNMT3A G590fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 590 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). G590fs has not been characterized, however, due to the effects of other truncation mutations downstream of G590 (PMID: 28872462, PMID: 26595813, PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function.
G699fs frameshift loss of function - predicted DNMT3A G699fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 699 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). G699fs has not been characterized, however, due to the effects of other truncation mutations downstream of G699 (PMID: 28872462, PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function.
G707fs frameshift loss of function - predicted DNMT3A G707fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 707 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). G707fs has not been characterized, however, due to the effects of other truncation mutations downstream of G707 (PMID: 28872462, PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function.
inact mut unknown loss of function DNMT3A inact mut indicates that this variant results in a loss of function of the Dnmt3a protein. However, the specific amino acid change has not been identified.
L723fs frameshift loss of function DNMT3A L723fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 723 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). L723fs confers a loss of function to the Dnmt3a protein as demonstrated by failure to dimerize with wild-type Dnmt3a and loss of methyltransferase activity in in vitro assays (PMID: 28872462).
mutant unknown unknown DNMT3A mutant indicates an unspecified mutation in the DNMT3A gene.