MLH1 T45_I47delinsCF - Gene Variant Detail

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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 compared to wild-type in culture (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 T45_I47delinsCF

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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
NM_001354629.1 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_001258271 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_001354630.1 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_001354628.2 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_001354630.2 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_001258271.2 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
XM_005265161.2 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
NM_001354628.1 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References