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Gene MLH1
Variant R100P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 R100P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R100P results in Pms2 and Mlh1 expression comparable to wild-type in culture (PMID: 36054288) but confers a loss of function to the Mlh1 protein as demonstrated by loss of mismatch repair (MMR) activity in an in vitro assay (PMID: 17510385) and in culture (PMID: 36054288), increased Mlh1 degradation, and decreased Pms2 interaction compared to wild-type in cell culture (PMID: 31697235).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 R100P

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Transcript NM_000249.4
gDNA chr3:g.37001046G>C
cDNA c.299G>C
Protein p.R100P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265163 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001167619 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001258271 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
XM_005265164 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354617.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001354618.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
XM_047448155.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001258274.3 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001167618.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001258273.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354615.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
XM_047448154.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_000249 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001258274.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
XM_005265161 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001354619.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001354617.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354616.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001167618 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001354616.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001167618.3 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
XM_047448153.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354619.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354618.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001167619.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001258273.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001258274 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001258273 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001167619.3 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354615.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References