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Gene | MLH1 |
Variant | T45_I47delinsCF |
Impact List | indel |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 T45_I47delinsCF results in a deletion of three amino acids within the ATPase domain of the Mlh1 protein (PMID: 22753075) from aa 45 to aa 47, combined with the insertion of an cysteine (C) and a phenylalanine (F) at the same site. T45_I47delinsCF confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay, altered subcellular localization, and reduced protein expression as compared to wild-type (PMID: 21120944). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 T45_I47delinsCF |
Transcript | NM_000249.4 |
gDNA | chr3:g.36996635_36996643delinsTGTTTT |
cDNA | c.133_141delinsTGTTTT |
Protein | p.T45_I47delinsCF |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265161.2 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_001354629.1 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.36996635_36996643delinsTGTTTT | c.133_141delinsTGTTTT | p.T45_I47delinsCF | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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