Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

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 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), increased Mlh1 degradation, and decreased Pms2 interaction compared to wild-type in cell culture (PMID: 31697235).
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Transcript NM_000249.3
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
NM_001167619.2 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
XM_005265161 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
XM_005265163 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_001258274 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_001167619 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_001354617.1 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001258273.1 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_001167618 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001354618.1 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
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_000249 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001258273 chr3:g.37020446_37020447delAGinsCC c.298_299delAGinsCC p.R100P RefSeq GRCh38/hg38
NM_001258274.2 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_001258271.1 chr3:g.37001046G>C c.299G>C p.R100P RefSeq GRCh38/hg38
NM_001167618.2 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MLH1 inact mut colorectal cancer not applicable N/A Preclinical Emerging In a preclinical study, MLH1 inactivation through hypermethylation was associated with high microsatellite instability (MSI-H) colorectal carcinoma by whole genome sequencing of tumor samples (PMID: 22810696), suggesting it may be a potential biomarker. 22810696
MLH1 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...
MLH1 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). detail...
MLH1 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MLH1 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MLH1 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MLH1 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
MLH1 R100P loss of function