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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 |
| Transcript | NM_000249.4 |
| gDNA | chr3:g.37025751C>T |
| cDNA | c.1153C>T |
| Protein | p.R385C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |