Gene Variant Detail

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Gene MLH1
Variant D748A
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MLH1 D748A does not lie within any known functional domains of the Mlh1 protein (UniProt.org). D748A results in Mlh1 and Pms2 expression comparable to wild-type and mismatch repair activity similar to wild-type in culture (PMID: 36054288), and therefore, is predicted to have no effect on Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 D748A

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Transcript NM_000249.4
gDNA chr3:g.37050625A>C
cDNA c.2243A>C
Protein p.D748A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37050625A>C c.2243A>C p.D748A 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 D748A no effect - predicted