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Gene | MLH1 |
Variant | P28L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 P28L lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). P28L is predicted to lead to loss of Mlh1 function as indicated by a loss of mismatch repair activity (MMR) in in vitro assays (PMID: 22753075, PMID: 17510385), and reduced protein expression compared to wild-type in culture (PMID: 21120944). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 P28L |
Transcript | NM_000249.4 |
gDNA | chr3:g.36993630C>T |
cDNA | c.83C>T |
Protein | p.P28L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |