MLH1 L559R
Gene Variant Detail

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Gene MLH1
Variant L559R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 L559R lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L559R is conflicting as it results in decreased protein expression and disruption of the interaction between Mlh1 and Pms2 in culture in one study (PMID: 16724012) but in another study results in interaction with Pms2 similar to wild-type in a yeast two-hybrid assay (PMID: 21952876).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 L559R

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Transcript NM_000249.4
gDNA chr3:g.37042276T>G
cDNA c.1676T>G
Protein p.L559R
Source Database RefSeq
Genome Build 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.