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Gene MLH1
Variant A541Dfs*50
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 A541Dfs*50 indicates a shift in the reading frame starting at amino acid 541 and terminating 50 residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). A541Dfs*50 results in loss of interaction with Pms2 and Exo1 in a yeast-two-hybrid assay, reduced Pms2 expression in an in vitro assay (PMID: 12810663), 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 A541Dfs*50

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Transcript NM_000249.4
gDNA chr3:g.37040249delC
cDNA c.1622delC
Protein p.A541Dfs*50
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37040249delC c.1622delC p.A541Dfs*50 RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37040249delC c.1622delC p.A541Dfs*50 RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37040249delC c.1622delC p.A541Dfs*50 RefSeq GRCh38/hg38

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