MLH1 Back

mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)

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NCBI Description of MLH1
This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.

Community Annotation of MLH1 Add / Edit MLH1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

MLH1 is highly significantly mutated in
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MLH1 is significantly mutated in
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MLH1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for MLH1