MLH1 H733Qfs*14
Gene Variant Detail

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Gene MLH1
Variant H733Qfs*14
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 H733Qfs*14 indicates a shift in the reading frame starting at amino acid 733 and terminating 14 residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). H733Qfs*14 results in reduced Pms2 expression compared to wild-type Mlh1 in an in vitro assay, loss of interaction with Pms2 and Exo1 in a yeast-two-hybrid assay (PMID: 12810663), loss of Mlh1 and Pms2 expression, microsatellite instability in a patient sample (PMID: 31028081), and due to loss of the C-terminal domain (PMID: 16338176), is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 H733Qfs*14

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Transcript NM_000249.4
gDNA chr3:g.37050580_37050581insAAAA
cDNA c.2198_2199insAAAA
Protein p.H733Qfs*14
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37050580_37050581insAAAA c.2198_2199insAAAA p.H733Qfs*14 RefSeq GRCh38/hg38

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