Gene Detail

Gene Symbol DNMT3A
Synonyms DNMT3A2 | 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).
Entrez Id 1788
Chromosome 2
Map Location 2p23.3
Canonical Transcript NM_022552

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
Q515* nonsense loss of function - predicted DNMT3A Q515* results in a premature truncation within the ADD domain of the Dnmt3a protein at amino acid 515 of 912 (UniProt.org). Due to the loss of multiple domains (UniProt.org), Q515* is predicted to result in a loss of Dnmt3a protein function.
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.
A376T missense unknown DNMT3A A376T lies within the DNMT1 and DNMT3B-interacting region of the Dnmt3a protein (UniProt.org). A376T has been identified in the scientific literature (PMID: 23300180), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
F909C missense unknown DNMT3A F909C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). F909C has been identified in sequencing studies (PMID: 22817890), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
Y533C missense unknown DNMT3A Y533C lies within the ADD domain of the Dnmt3a protein (UniProt.org). Y533C has been identified in sequencing studies (PMID: 27288520, PMID: 28194436, PMID: 22490330), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R836W missense loss of function - predicted DNMT3A R836W lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R836W results in modestly reduced Dnmt3A activity and overall methylation, with increased non-CpG methylation, and cytokine-independent growth in cell culture (PMID: 29414941).
V636M missense unknown DNMT3A V636M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V636M has been identified in the scientific literature (PMID: 21993668, PMID: 29386642, PMID: 27881874, PMID: 27127180), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
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). Due to the loss of the SAM-dependent MTase C5-type domain (UniProt.org), F751fs is predicted to lead to a loss of Dnmt3a protein function.
Q886E missense unknown DNMT3A Q886E lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org.) Q886E has been identified in the scientific literature (PMID: 27276561, PMID: 23251566, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Nov 2018).
E505* nonsense loss of function - predicted DNMT3A E505* results in a premature truncation within the ADD domain of the Dnmt3a protein at amino acid 505 of 912 (UniProt.org). Due to the loss of multiple domains (UniProt.org), Q505* is predicted to result in a loss of Dnmt3a protein function.
D811Y missense unknown DNMT3A D811Y lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). D811Y has been identified in the scientific literature (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
H873A missense loss of function DNMT3A H873A lies within the dimer interface region of the Dnmt3a protein (PMID: 22722925). H873A disrupts the teramerization ability of the Dnmt3a protein, resulting in reduced DNA binding affinity, reduced methylation activity, and altered catalytic activity (PMID: 22722925).
P718L missense loss of function DNMT3A P718L lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). P718L results in reduced Dnmt3A enzymatic activity and decreased DNA methylation at commonly demethylated sites, and cytokine-independent growth in cell culture (PMID: 29414941).
P569_A574del deletion unknown DNMT3A P569_A574del results in the deletion of six amino acids in the ADD domain of the Dnmt3a protein from amino acids 569 to 574 (UniProt.org). P569_A574del has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R792H missense loss of function DNMT3A R792H lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R792H results in decreased Dnmt3a enzymatic activity, reduced cytosine methylation in the presence of wild-type Dnmt3a, and cytokine-independent growth in cell culture (PMID: 29414941).
N879A missense loss of function DNMT3A N879A lies within the dimer interface region of the Dnmt3a protein (PMID: 22722925). N879A disrupts the teramerization ability of the Dnmt3a protein, resulting in reduced DNA binding affinity, reduced methylation activity, and altered catalytic activity (PMID: 22722925).
R771L missense loss of function - predicted DNMT3A R771L lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R771L is predicted to confer a loss of function to the Dnmt3a protein, as demonstrated by loss of methylation activity (PMID: 22722925).
R882C missense unknown DNMT3A R882C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R882C is conflicting as it has been associated with hypomethylation in patient samples (PMID: 24656771), however, in an AML cell line harboring R882C, DNMT3A-dependent loci were found to be hypermethylated (PMID: 29618788).
K721R missense unknown DNMT3A K721R lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). K721R has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
over exp none no effect DNMT3A over exp indicates an over expression of the Dnmt3a protein. However, the mechanism causing the over expression is unspecified.
V649M missense unknown DNMT3A V649M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V649M has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R882P missense unknown DNMT3A R882P lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R882P has been identified in sequencing studies (PMID: 23135354), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
amp none no effect DNMT3A amp indicates an increased number of copies of the Dnmt3a gene. However, the mechanism causing the increase is unspecified.
S714C missense unknown DNMT3A S714C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). S714C has been identified in sequencing studies (PMID: 21967546, PMID: 26648538, PMID: 27288520, PMID: 21415852), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
E664K missense unknown DNMT3A E664K lies within the SAM-dependent MTase C5-type domain of the Dnmt3A protein (UniProt.org). E664K has been identified in sequencing studies (PMID: 22749068), but has not been biochemically characterized and therefore, its effect on Dnmt3A protein function is unknown (PubMed, Oct 2018).
K841E missense loss of function DNMT3A K841E lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). K841E results in decreased Dnmt3a enzymatic activity, reduced cytosine methylation in the presence of wild-type Dnmt3a, and cytokine-independent growth in cell culture (PMID: 29414941).
Q886* nonsense unknown DNMT3A Q886* results in a premature truncation of the Dnmt3a protein at amino acid 886 of 912 (UniProt.org). Q886* has been identified in the scientific literature (PMID: 29414941), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R899H missense unknown DNMT3A R899H lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R899H has been identified in sequencing studies (PMID: 27276561, PMID: 29472349, PMID: 23632886, PMID: 27881874), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
A910V missense unknown DNMT3A A910V lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). A910V has been identified in sequencing studies (PMID: 24923295, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
E240* nonsense loss of function - predicted DNMT3A E240* results in a premature truncation of the Dnmt3a protein at amino acid 240 of 912 (UniProt.org). Due to the loss of the catalytic domain (UniProt.org), E240* is predicted to lead to a loss of Dnmt3a protein function.
R885A missense loss of function - predicted DNMT3A R885A lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R885A is predicted to confer a loss of function to the Dnmt3a protein, as demonstrated by loss of methylation activity (PMID: 22722925).
P59L missense unknown DNMT3A P59L does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). P59L has been identified in the scientific literature (PMID: 27900369), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R736H missense loss of function - predicted DNMT3A R736H lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R736H is predicted to confer a loss of function to the Dnmt3a protein, as demonstrated by decreased methylation activity (PMID: 22722925).
K841Q missense unknown DNMT3A K841Q lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). K841Q has been identified in sequencing studies (PMID: 21067377), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
W860A missense loss of function DNMT3A W860A lies within the dimer interface region of the Dnmt3a protein (PMID: 22722925). W860A disrupts the tetramerization ability of the Dnmt3a protein, resulting in reduced DNA binding affinity, reduced methylation activity, and altered catalytic activity (PMID: 22722925).
E30A missense unknown DNMT3A E30A does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). E30A has been identified in sequencing studies (PMID: 27486981, PMID: 25886620, PMID: 21519343), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Nov 2018).
M880I missense unknown DNMT3A M880I lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). M880I has been identified in the scientific literature (PMID: 27276561), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
C497Y missense unknown DNMT3A C497Y lies within the ADD domain of the Dnmt3a protein (UniProt.org). C497Y has been identified in sequencing studies (PMID: 27276561, PMID: 25092143), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
I407T missense unknown DNMT3A I407T does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). I407T has been identified in sequencing studies (PMID: 22642896), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R803S missense unknown DNMT3A R803S lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R803S has been identified in sequencing studies (PMID: 21067377), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
Y735S missense unknown DNMT3A Y735S lies within the SAM-dependent C5-type MTase domain of the Dnmt3a protein (UniProt.org). Y735S has been identified in the scientific literature (PMID: 26290145, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
L737F missense unknown DNMT3A L737F lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). L737F has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
wild-type none no effect Wild-type DNMT3A indicates that no mutation has been detected within the DNMT3A gene.
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.
R882H missense loss of function DNMT3A R882H lies within the dimer interface region of the Dnmt3a protein (PMID: 22722925). R882H disrupts the tetramerization ability of the Dnmt3a protein, resulting in reduced DNA binding affinity, reduced methylation activity, and altered catalytic activity (PMID: 22722925).
V785M missense unknown DNMT3A V785M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V785M has been identified in sequencing studies (PMID: 22490330), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
G685E missense unknown DNMT3A G685E lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). G685E has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
L723fs frameshift loss of function - predicted 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). Due to the loss of the catalytic domain (UniProt.org), L723fs is predicted to lead to a loss of Dnmt3a protein function.
A741V missense unknown DNMT3A A741V lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). A741V has been identified in sequencing studies (PMID: 21067377, PMID: 26373574), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
L805* nonsense unknown DNMT3A L805* results in a premature truncation of the Dnmt3a protein at amino acid 805 of 912 (UniProt.org). L805* has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R729W missense loss of function - predicted DNMT3A R729W lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R729W is predicted to confer a loss of function to the Dnmt3a protein, as demonstrated by loss of methylation activity (PMID: 22722925).
A121S missense unknown DNMT3A A121S does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). A121S has been identified in the scientific literature (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
G302del deletion unknown DNMT3A G302del results in the deletion of an amino acid in the PWWP domain and DNMT1 and DNMT3B-interacting region of the Dnmt3a protein at amino acid 302 (UniProt.org). G302del has been identified in the scientific literature (PMID: 24659740), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R659H missense unknown DNMT3A R659H lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R659H has been identified in sequencing studies (PMID: 21519343), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
T835M missense loss of function DNMT3A T835M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). T835M results in reduced Dnmt3A enzymatic activity and decreased DNA methylation at commonly demethylated sites, and cytokine-independent growth in cell culture (PMID: 29414941).
R720C missense unknown DNMT3A R720C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R720C has been identified in sequencing studies (PMID: 23856246), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
W409C missense unknown DNMT3A W409C does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). W409C has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
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). Due to the loss of the catalytic domain (UniProt.org), G590fs is predicted to lead to a loss of Dnmt3a protein function.
N838D missense loss of function DNMT3A N838D lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). N838D results in reduced Dnmt3A enzymatic activity and decreased DNA methylation at commonly demethylated sites, and cytokine-independent growth in cell culture (PMID: 29414941).
R598* nonsense loss of function - predicted DNMT3A R598* results in a premature truncation of the Dnmt3a protein at amino acid 598 of 912 (UniProt.org). Q598* is predicted to result in a loss of Dnmt3a function.
V716I missense unknown DNMT3A V716I lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V716I has been identified in sequencing studies (PMID: 27288520, PMID: 27534895, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
D876G missense loss of function DNMT3A D876G lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). D876G disrupts Dnmt3a tetramer formation and leads to decreased Dnmt3a activity in in vitro assays (PMID: 22722925).
G890D missense unknown DNMT3A G890D lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). G890D has been identified in sequencing studies (PMID: 22749068, PMID: 25426838, PMID: 25426837), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
M513I missense unknown DNMT3A M513I lies within the ADD domain of the Dnmt3a protein (UniProt.org). M513I has been identified in the scientific literature (PMID: 27276561), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R771Q missense unknown DNMT3A R771Q lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R771Q has been identified in sequencing studies (PMID: 27276561, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
Y793* nonsense loss of function - predicted DNMT3A Y793* results in a premature truncation of the Dnmt3a protein at amino acid 793 of 912 (UniProt.org). Y793* is predicted to result in a loss of Dnmt3a function.
Q615* nonsense loss of function - predicted DNMT3A Q615* results in a premature truncation of the Dnmt3a protein at amino acid 615 of 912 (UniProt.org). Q615* is predicted to result in a loss of Dnmt3a function.
R301W missense unknown DNMT3A R301W lies within the PWWP domain and DNMT1 and DNMT3B-interacting region of the Dnmt3a protein (UniProt.org). R301W has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
H873R missense loss of function DNMT3A H873R lies within the dimer interface region of the Dnmt3a protein (PMID: 22722925). H873R disrupts the teramerization ability of the Dnmt3a protein, resulting in reduced DNA binding affinity, reduced methylation activity, and altered catalytic activity (PMID: 22722925).
Q485H missense unknown DNMT3A Q485H lies within the ADD domain of the Dnmt3a protein (UniProt.org). Q485H has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
K829R missense unknown DNMT3A K829R lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). K829R has been identified in sequencing studies (PMID: 21067377), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R320* nonsense loss of function - predicted DNMT3A R320* results in a premature truncation of the Dnmt3a protein at amino acid 320 of 912 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R320* is predicted to lead to a loss of Dnmt3a protein function.
S894R missense unknown DNMT3A S894R lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org.) S894R has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R19W missense unknown DNMT3A R19W does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). R19W has been identified in the scientific literature (PMID: 24793135, PMID: 23305405), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R749C missense unknown DNMT3A R749C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R749C has been identified in sequencing studies (PMID: 27276561), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
P904L missense unknown DNMT3A P904L lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). P904L has been identified in sequencing studies (PMID: 21067377, PMID: 27881874, PMID: 27149842, PMID: 27288520, PMID: 27276561), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
S352N missense unknown DNMT3A S352N lies within the DNMT1 and DNMT3B-interacting region of the Dnmt3a protein (UniProt.org). S352N has been identified in sequencing studies (PMID: 21993668), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
V716D missense loss of function DNMT3A V716D lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V716D results in decreased Dnmt3a enzymatic activity, reduced cytosine methylation in the presence of wild-type Dnmt3a, and cytokine-independent growth in cell culture (PMID: 29414941).
F414S missense unknown DNMT3A F414S does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). F414S has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
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). Due to the loss of the catalytic domain (UniProt.org), F731fs is predicted to lead to a loss of Dnmt3a protein function.
C911Y missense unknown DNMT3A C911Y lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (Uniprot.org). C911Y has been identified in sequencing studies (PMID: 22722750), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
E477* nonsense loss of function - predicted DNMT3A E477* results in a premature truncation of the Dnmt3a protein at amino acid 477 of 912 (UniProt.org). Due to the loss of the catalytic domain (UniProt.org), E477* is predicted to lead to a loss of Dnmt3a protein function.
R478Q missense unknown DNMT3A R478Q lies within the ADD domain of the Dnmt3a protein (UniProt.org). R478Q has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
Y528_S535dup duplication unknown DNMT3A Y528_S535dup indicates the insertion of 8 duplicate amino acids, tyrosine (Y)-528 through serine (S)-535 in the ADD domain of the Dnmt3a protein (UniProt.org). Y528_S535dup has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
R729Q missense unknown DNMT3A R729Q lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R729Q has been identified in sequencing studies (PMID: 21067377, PMID: 28446434), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
Y436* nonsense loss of function - predicted DNMT3A Y436* results in a premature truncation of the Dnmt3a protein at amino acid 436 of 912 (UniProt.org). Due to the loss of the SAM-dependent MTase C5-type domain, Y436* is predicted to lead to a loss of Dnmt3a protein function (UniProt.org).
G746V missense unknown DNMT3A G746V lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). G746V has been identified in the scientific literature (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
Q606* nonsense loss of function - predicted DNMT3A Q606* results in a premature truncation of the Dnmt3a protein at amino acid 606 of 912 (UniProt.org). Q606* is predicted to result in a loss of Dnmt3a function.
R792S missense unknown DNMT3A R792S lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R792S has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
mutant unknown unknown DNMT3A mutant indicates an unspecified mutation in the DNMT3A gene.
Molecular Profile Protein Effect Treatment Approaches
DNMT3A Q515* loss of function - predicted
DNMT3A act mut gain of function
DNMT3A A376T unknown
DNMT3A F909C unknown
DNMT3A Y533C unknown
DNMT3A R836W loss of function - predicted
DNMT3A V636M unknown
DNMT3A F751fs loss of function - predicted
DNMT3A Q886E unknown
DNMT3A E505* loss of function - predicted
DNMT3A D811Y unknown
DNMT3A H873A loss of function
DNMT3A P718L loss of function
DNMT3A P569_A574del unknown
DNMT3A R792H loss of function
DNMT3A N879A loss of function
DNMT3A R771L loss of function - predicted
DNMT3A R882C unknown
DNMT3A K721R unknown
DNMT3A over exp no effect
DNMT3A V649M unknown
DNMT3A R882P unknown
DNMT3A amp no effect
DNMT3A S714C unknown
DNMT3A E664K unknown
DNMT3A K841E loss of function
DNMT3A Q886* unknown
DNMT3A R899H unknown
DNMT3A A910V unknown
DNMT3A E240* loss of function - predicted
DNMT3A R885A loss of function - predicted
DNMT3A P59L unknown
DNMT3A R736H loss of function - predicted
DNMT3A K841Q unknown
DNMT3A W860A loss of function
DNMT3A E30A unknown
DNMT3A M880I unknown
DNMT3A C497Y unknown
DNMT3A I407T unknown
DNMT3A R803S unknown
DNMT3A Y735S unknown
DNMT3A L737F unknown
DNMT3A wild-type no effect
DNMT3A inact mut loss of function
DNMT3A R882H loss of function
DNMT3A R882H FLT3 Y599_D600insSTDNEYFYVDFREYEY NPM1 W288fs
DNMT3A V785M unknown
DNMT3A G685E unknown
DNMT3A L723fs loss of function - predicted
DNMT3A A741V unknown
DNMT3A L805* unknown
DNMT3A R729W loss of function - predicted
DNMT3A A121S unknown
DNMT3A G302del unknown
DNMT3A R659H unknown
DNMT3A T835M loss of function
DNMT3A R720C unknown
DNMT3A W409C unknown
DNMT3A G590fs loss of function - predicted
DNMT3A N838D loss of function
DNMT3A R598* loss of function - predicted
DNMT3A V716I unknown
DNMT3A D876G loss of function
DNMT3A G890D unknown
DNMT3A M513I unknown
DNMT3A R771Q unknown
DNMT3A Y793* loss of function - predicted
DNMT3A Q615* loss of function - predicted
DNMT3A R301W unknown
DNMT3A H873R loss of function
DNMT3A Q485H unknown
DNMT3A K829R unknown
DNMT3A R320* loss of function - predicted
DNMT3A S894R unknown
DNMT3A R19W unknown
DNMT3A R749C unknown
DNMT3A P904L unknown
DNMT3A S352N unknown
DNMT3A V716D loss of function
DNMT3A F414S unknown
DNMT3A F731fs loss of function - predicted
DNMT3A C911Y unknown
DNMT3A E477* loss of function - predicted
DNMT3A R478Q unknown
DNMT3A Y528_S535dup unknown
DNMT3A R729Q unknown
DNMT3A Y436* loss of function - predicted
DNMT3A G746V unknown
DNMT3A Q606* loss of function - predicted
DNMT3A R792S unknown
DNMT3A mut unknown
DNMT3A mut FLT3 mut NPM1 mut
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
DNMT3A mut acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in DNMT3A were associated with poor prognosis and shorter overall survival in patients with acute myeloid leukemia (PMID: 22490330, PMID: 21881046, PMID: 21670448). 22490330 21881046 21670448
DNMT3A mut acute myeloid leukemia predicted - sensitive Decitabine Clinical Study Actionable In a clinical study, acute myeloid leukemia patients harboring DNMT3A mutations demonstrated a greater complete response rate (60% vs 33%) compared to acute myeloid leukemia patients with wild-type DNMT3A when treated with hypomethylating agents such as Dacogen (decitabine) (PMID: 27418649). 27418649
DNMT3A mut FLT3 mut NPM1 mut acute myeloid leukemia not applicable N/A Clinical Study Emerging In a retrospective analysis, the combination of DNMT3A, FLT3, and NPM1 mutations in patients with acute myeloid leukemia was highly associated with decreased event-free survival and overall survival, suggesting that this combination profile may serve as a future prognostic biomarker (PMID: 25281355). 25281355