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Gene | MLH1 |
Variant | I330del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 I330del results in the deletion of an amino acid in the ATPase domain of the Mlh1 protein (PMID: 22753075) at amino acid 330. I330del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in-vitro assay and altered subcellular localization as compared to wild-type (PMID: 21120944). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 I330del |
Transcript | NM_000249.4 |
gDNA | chr3:g.37020413_37020415delATC |
cDNA | c.988_990delATC |
Protein | p.I330delI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001167618.2 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354625.1 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
XM_047448154.1 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
NM_001354617.2 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001167618.3 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354615.1 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354619.1 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
NM_001354627.2 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.37025689_37025691delCAA | c.992_994delCAA | p.T331delT | RefSeq | GRCh38/hg38 |
NM_001354622.2 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
XM_005265166 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
NM_001354615.2 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354629.1 | chr3:g.37025689_37025691delCAA | c.992_994delCAA | p.T331delT | RefSeq | GRCh38/hg38 |
NM_001258273.2 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
NM_001354621.1 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
XM_005265164 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001258274.3 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354626.1 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
NM_001167618 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354620.1 | chr3:g.37025882_37025884delTGA | c.990_992delTGA | p.D330delD | RefSeq | GRCh38/hg38 |
NM_001167617.2 | chr3:g.37025882_37025884delTGA | c.990_992delTGA | p.D330delD | RefSeq | GRCh38/hg38 |
NM_001354625.2 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
NM_001354627.1 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
NM_001167617 | chr3:g.37025882_37025884delTGA | c.990_992delTGA | p.D330delD | RefSeq | GRCh38/hg38 |
NM_001258274.2 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354621.2 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
NM_001258273 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
XM_017006451 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
NM_001354622.1 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
NM_001167619 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354616.1 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
NM_001354624.2 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
NM_001167619.3 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354618.1 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001167617.3 | chr3:g.37025882_37025884delTGA | c.990_992delTGA | p.D330delD | RefSeq | GRCh38/hg38 |
NM_001354623.1 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
NM_001354616.2 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
XM_047448152.1 | chr3:g.37025689_37025691delCAA | c.992_994delCAA | p.T331delT | RefSeq | GRCh38/hg38 |
XM_005265163 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37025794_37025796delCTC | c.989_991delCTC | p.P330delP | RefSeq | GRCh38/hg38 |
NM_001258273.1 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
NM_001167619.2 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354623.2 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
XM_017006450 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
NM_001354626.2 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
NM_001354620.2 | chr3:g.37025882_37025884delTGA | c.990_992delTGA | p.D330delD | RefSeq | GRCh38/hg38 |
XM_011533727 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
XM_017006450.2 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
NM_001354618.2 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354624.1 | chr3:g.37048976_37048978delAAG | c.988_990delAAG | p.K330delK | RefSeq | GRCh38/hg38 |
XM_047448155.1 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001354617.1 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.37025794_37025796delCTC | c.989_991delCTC | p.P330delP | RefSeq | GRCh38/hg38 |
XM_017006449 | chr3:g.37048925_37048927delGAA | c.988_990delGAA | p.E330delE | RefSeq | GRCh38/hg38 |
NM_001354619.2 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
NM_001258274 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37020413_37020415delATC | c.988_990delATC | p.I330delI | RefSeq | GRCh38/hg38 |
XM_047448153.1 | chr3:g.37042311_37042313delTTT | c.988_990delTTT | p.F330delF | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.37025794_37025796delCTC | c.989_991delCTC | p.P330delP | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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