Gene Variant Detail

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Gene MLH1
Variant Q48P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 Q48P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). Q48P results in loss of Mlh1 expression and is associated with microsatellite instability in patient samples (PMID: 22395473) and loss of Mlh1 expression in cultured cells and reduced interaction with Pms2 in a yeast-two-hybrid assay (PMID: 21404117), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 Q48P

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Transcript NM_000249.4
gDNA chr3:g.36996645A>C
cDNA c.143A>C
Protein p.Q48P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.36996645A>C c.143A>C p.Q48P RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36996645A>C c.143A>C p.Q48P RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36996645A>C c.143A>C p.Q48P RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36996645A>C c.143A>C p.Q48P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36996645A>C c.143A>C p.Q48P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36996645A>C c.143A>C p.Q48P 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 Protein Effect Treatment Approaches
MLH1 Q48P unknown