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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).

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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.
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.
mutant unknown unknown DNMT3A mutant indicates an unspecified mutation in the DNMT3A gene.
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 fails to dimerize and results in a loss of methyltransferace activity in an in vitro assay (PMID: 28872462).
F731fs frameshift unknown 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 and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Jul 2020).
F751fs frameshift unknown 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 in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Jul 2020).
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), G590fs is predicted to lead to a loss of Dnmt3a protein function.
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 fails to dimerize and results in a loss of methyltransferace activity in an in vitro assay (PMID: 28872462).