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Gene | MLH1 |
Variant | E102D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 E102D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E102D retains expression of Mlh1 (PMID: 17510385, PMID: 31697235) and Pms2 in cultured cells, but results in decreased mismatch repair activity (MMR) in an in vitro assay (PMID: 17510385), and therefore, is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 E102D |
Transcript | NM_000249.4 |
gDNA | chr3:g.37001053G>C |
cDNA | c.306G>C |
Protein | p.E102D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |