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| Gene | MLH1 |
| Variant | A281V |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | MLH1 A281V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). A281V results in mismatch repair activity comparable to wild-type Mlh1 in yeast assays and in an in vitro assay (PMID: 17510385), and therefore, is predicted to have no effect on Mlh1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
MLH1 mutant MLH1 A281V |
| Transcript | NM_000249.4 |
| gDNA | chr3:g.37017557C>T |
| cDNA | c.842C>T |
| Protein | p.A281V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |