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Gene MLH1
Variant F80V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 F80V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). F80V confers a loss of function on Mlh1 as indicated by reduced mismatch repair activity (MMR) relative to wild-type Mlh1 in in vitro assays (PMID: 16083711, PMID: 21120944, PMID: 17510385).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 F80V

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Transcript NM_000249.4
gDNA chr3:g.37000985T>G
cDNA c.238T>G
Protein p.F80V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
NM_001258271 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
XM_005265161 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
NM_000249 chr3:g.37000985T>G c.238T>G p.F80V RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37000985T>G c.238T>G p.F80V 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
MLH1 F80V loss of function