Gene Variant Detail

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Gene MLH1
Variant R385C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MLH1 R385C does not lie within any known functional domains of the Mlh1 protein (UniProt.org). R385C results in Mlh1 protein expression level, DNA polymerase slippage rate, and methylation-damage-induced mutagenesis rate similar to wild-type Mlh1 in culture (PMID: 31784484), and therefore, is predicted to have no effect on Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R385C

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Transcript NM_000249.4
gDNA chr3:g.37025751C>T
cDNA c.1153C>T
Protein p.R385C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37025751C>T c.1153C>T p.R385C RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37025751C>T c.1153C>T p.R385C RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37025751C>T c.1153C>T p.R385C RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37025751C>T c.1153C>T p.R385C RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37025751C>T c.1153C>T p.R385C RefSeq GRCh38/hg38
NM_000249 chr3:g.37025751C>T c.1153C>T p.R385C RefSeq GRCh38/hg38
NM_001258271 chr3:g.37025751C>T c.1153C>T p.R385C RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37025751C>T c.1153C>T p.R385C RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37025751C>T c.1153C>T p.R385C RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37025751C>T c.1153C>T p.R385C 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries