MLH1 H264Lfs*2
Gene Variant Detail

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Gene MLH1
Variant H264Lfs*2
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 H264Lfs*2 indicates a shift in the reading frame starting at amino acid 264 and terminating 2 residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). H264Lfs*2 results in aberrant splicing and deficient mismatch repair activity in an in vitro assay (PMID: 32849802), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 H264Lfs*2

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Transcript NM_000249.4
gDNA chr3:g.37014544_37014545insTATA
cDNA c.790_790+1insTATA
Protein p.H264Lfs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.3 chr3:g.37014544_37014545insTATA c.790_790+1insTATA p.H264Lfs*2 RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37014544_37014545insTATA c.790_790+1insTATA p.H264Lfs*2 RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37014544_37014545insTATA c.790_790+1insTATA p.H264Lfs*2 RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37014544_37014545insTATA c.790_790+1insTATA p.H264Lfs*2 RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37014544_37014545insTATA c.790_790+1insTATA p.H264Lfs*2 RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37014544_37014545insTATA c.790_790+1insTATA p.H264Lfs*2 RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37014544_37014545insTATA c.790_790+1insTATA p.H264Lfs*2 RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37014544_37014545insTATA c.790_790+1insTATA p.H264Lfs*2 RefSeq GRCh38/hg38

Filtering

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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 Protein Effect Treatment Approaches
MLH1 H264Lfs*2 loss of function - predicted