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Gene | MLH1 |
Variant | E71del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 E71del results in the deletion of an amino acid within the ATPase domain of the Mlh1 protein at amino acid 71 (PMID: 22753075). E71del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay and decreased protein expression compared to wild-type in culture (PMID: 21120944), and therefore, is predicted to lead a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 E71del |
Transcript | NM_000249.4 |
gDNA | chr3:g.37000960_37000962delAGA |
cDNA | c.213_215delAGA |
Protein | p.E71delE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
NM_001167617 | chr3:g.37008865_37008867delCCA | c.211_213delCCA | p.P71delP | RefSeq | GRCh38/hg38 |
NM_001167617.2 | chr3:g.37008865_37008867delCCA | c.211_213delCCA | p.P71delP | RefSeq | GRCh38/hg38 |
NM_001167617.3 | chr3:g.37008865_37008867delCCA | c.211_213delCCA | p.P71delP | RefSeq | GRCh38/hg38 |
NM_001167618 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001167618.2 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001167618.3 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001167619 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001167619.2 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001167619.3 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
NM_001258273 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001258273.1 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001258273.2 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001258274 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001258274.2 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001258274.3 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354615.1 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354615.2 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354616.1 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354616.2 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354617.1 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354617.2 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354618.1 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354618.2 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354619.1 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354619.2 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
NM_001354620.1 | chr3:g.37008865_37008867delCCA | c.211_213delCCA | p.P71delP | RefSeq | GRCh38/hg38 |
NM_001354620.2 | chr3:g.37008865_37008867delCCA | c.211_213delCCA | p.P71delP | RefSeq | GRCh38/hg38 |
NM_001354621.1 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
NM_001354621.2 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
NM_001354622.1 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
NM_001354622.2 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
NM_001354623.1 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
NM_001354623.2 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
NM_001354624.1 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
NM_001354624.2 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
NM_001354625.1 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
NM_001354625.2 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
NM_001354626.1 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
NM_001354626.2 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
NM_001354627.1 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
NM_001354627.2 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
NM_001354629.1 | chr3:g.37004404_37004406delTTG | c.211_213delTTG | p.L71delL | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.37004404_37004406delTTG | c.211_213delTTG | p.L71delL | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37000960_37000962delAGA | c.213_215delAGA | p.E71delE | RefSeq | GRCh38/hg38 |
XM_005265163 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
XM_005265164 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
XM_005265166 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
XM_011533727 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
XM_017006449 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
XM_017006450 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
XM_017006450.2 | chr3:g.37025832_37025834delGTC | c.211_213delGTC | p.V71delV | RefSeq | GRCh38/hg38 |
XM_017006451 | chr3:g.37025886_37025888delGAG | c.214_216delGAG | p.E72delE | RefSeq | GRCh38/hg38 |
XM_047448152.1 | chr3:g.37004404_37004406delTTG | c.211_213delTTG | p.L71delL | RefSeq | GRCh38/hg38 |
XM_047448153.1 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
XM_047448154.1 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
XM_047448155.1 | chr3:g.37020359_37020361delCAT | c.211_213delCAT | p.H71delH | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 E71del | loss of function - predicted |
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