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Gene MLH1
Variant R755S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 R755S does not lie within any known functional domains of the Mlh1 protein (UniProt.org). The functional effect of R755S is conflicting as it results in Mlh1 and Pms2 expression similar to wild-type, retains interaction with Pms2 in culture (PMID: 20533529), and leads to mismatch repair (MMR) activity similar to wild-type in yeast assays (PMID: 17510385) but results in reduced MMR activity in in vitro assays (PMID: 17510385, PMID: 20533529).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R755S

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Transcript NM_000249.4
gDNA chr3:g.37050647G>C
cDNA c.2265G>C
Protein p.R755S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37050647G>C c.2265G>C p.R755S 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 R755S unknown