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@genomenon.com

Gene MLH1
Variant H329P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 H329P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). H329P results in altered subcellular localization and reduced protein expression (PMID: 21120944), decreased mismatch repair (MMR) activity in yeast (PMID: 17510385), but demonstrates proficient mismatch repair activity (PMID: 21120944), and ATPase activity, suppression of interstitial telomeric sequences, and localization to double-strand break sites (DSBs) similar to wild-type Mlh1 in cultured cells (PMID: 29544212), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 H329P

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.

Transcript NM_000249.4
gDNA chr3:g.37020411A>C
cDNA c.986A>C
Protein p.H329P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.2 chr3:g.37020411A>C c.986A>C p.H329P RefSeq GRCh38/hg38
NM_001258271 chr3:g.37020411A>C c.986A>C p.H329P RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37020411A>C c.986A>C p.H329P RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37020411A>C c.986A>C p.H329P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37020411A>C c.986A>C p.H329P RefSeq GRCh38/hg38
NM_000249 chr3:g.37020411A>C c.986A>C p.H329P RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37020411A>C c.986A>C p.H329P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37020411A>C c.986A>C p.H329P RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37020411A>C c.986A>C p.H329P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37020411A>C c.986A>C p.H329P 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
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 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 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 ovarian cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of ovarian 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 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...