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Gene MLH1
Variant R498Efs*10
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 R498Efs*10 indicates a shift in the reading frame starting at amino acid 498 and terminating ten residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). R498Efs*10 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 R498Efs*10

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Transcript NM_000249.4
gDNA chr3:g.37028866delA
cDNA c.1492delA
Protein p.R498Efs*10
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37028866delA c.1492delA p.R498Efs*10 RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37028866delA c.1492delA p.R498Efs*10 RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37028866delA c.1492delA p.R498Efs*10 RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37028866delA c.1492delA p.R498Efs*10 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
MLH1 R498Efs*10 loss of function - predicted