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Gene MLH1
Variant D63E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 D63E lies within an ATP binding domain within the ATPase domain of the Mlh1 protein (PMID: 22753075). D63E confers a loss of function to the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay, reduced localization with Pms2 (PMID: 16083711), and decreased protein expression as compared to wild-type (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 D63E

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Transcript NM_000249.4
gDNA chr3:g.36996691C>G
cDNA c.189C>G
Protein p.D63E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001258273.2 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354617.2 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001167618.2 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
XM_047448154.1 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354616.2 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001167619.2 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
XM_005265163 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001167618 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001258274 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001258274.3 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354617.1 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001354619.1 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354616.1 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
XM_005265164 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
XM_005265161 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001258273.1 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
XM_047448155.1 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
XM_047448153.1 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001167619.3 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354615.1 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354618.1 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001258273 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001354619.2 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_000249 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001167619 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001354618.2 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36996691C>G c.189C>G p.D63E RefSeq GRCh38/hg38
NM_001354615.2 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001258274.2 chr3:g.37020337T>G c.189T>G p.D63E RefSeq GRCh38/hg38
NM_001167618.3 chr3:g.37020337T>G c.189T>G p.D63E 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
MLH1 D63E loss of function