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
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
XM_005265161 chr3:g.37047669_37047670delTTinsAG c.1675_1676delTTinsAG p.L559R RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37047669_37047670delTTinsAG c.1675_1676delTTinsAG p.L559R RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
NM_000249 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37042276T>G c.1676T>G p.L559R RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37047669_37047670delTTinsAG c.1675_1676delTTinsAG p.L559R RefSeq GRCh38/hg38

Filtering

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  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References