Gene Detail

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Gene Symbol MLH1
Synonyms COCA2 | FCC2 | hMLH1 | HNPCC | HNPCC2 | MLH-1 | MMRCS1
Gene Description MLH1, mutL homolog 1, is a tumor suppressor (PMID: 30562755) that dimerizes with Pms2 to form a component of the DNA mismatch repair (MMR) system (PMID: 16873062), and is associated with microsatellite instability (MSI) (PMID: 30121009) and genomic stability (PMID: 31747945). MLH1 promoter hypermethylation, resulting in Mlh1 deficiency, is frequently associated with sporadic colorectal, gastric, and esophageal cancers (PMID: 23555617, PMID: 21988782, PMID: 28224663, PMID: 28454461), and germline MLH1 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792).
ACMG Incidental List v3.0:
Yes, Lynch syndrome (PMID: 34012068)

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Molecular Profile Protein Effect Treatment Approaches
MLH1 A111P loss of function
MLH1 A120S unknown
MLH1 A128P loss of function
MLH1 A20V unknown
MLH1 A210T unknown
MLH1 A21V loss of function - predicted
MLH1 A29S no effect
MLH1 A31C loss of function - predicted
MLH1 A410T unknown
MLH1 A492T loss of function - predicted
MLH1 A589D unknown
MLH1 A619P loss of function - predicted
MLH1 A681T unknown
MLH1 A92T unknown
MLH1 C233R unknown
MLH1 C77R loss of function
MLH1 C77Y loss of function - predicted
MLH1 D304G loss of function - predicted
MLH1 D304V loss of function
MLH1 D41N unknown
MLH1 D41Y unknown
MLH1 D450Ifs*41 loss of function - predicted
MLH1 D631H unknown
MLH1 D63E loss of function
MLH1 D72Y unknown
MLH1 D737V unknown
MLH1 E102* loss of function - predicted
MLH1 E102D loss of function - predicted
MLH1 E13* loss of function - predicted
MLH1 E172K unknown
MLH1 E199K unknown
MLH1 E227* loss of function - predicted
MLH1 E23D loss of function - predicted
MLH1 E313* loss of function - predicted
MLH1 E319K unknown
MLH1 E34* loss of function - predicted
MLH1 E37K loss of function - predicted
MLH1 E460A no effect
MLH1 E578G loss of function
MLH1 E633_E663del loss of function
MLH1 E663A loss of function - predicted
MLH1 E703A unknown
MLH1 E71del loss of function
MLH1 E754Q unknown
MLH1 F530Lfs*5 loss of function - predicted
MLH1 F80V loss of function
MLH1 G101D loss of function
MLH1 G101S loss of function - predicted
MLH1 G101V loss of function
MLH1 G244D loss of function - predicted
MLH1 G357A unknown
MLH1 G532C unknown
MLH1 G67R loss of function
MLH1 G67W loss of function
MLH1 H109D unknown
MLH1 H109P loss of function - predicted
MLH1 H264Lfs*2 loss of function - predicted
MLH1 H264Y loss of function - predicted
MLH1 H308P loss of function - predicted
MLH1 H315Y unknown
MLH1 H329P loss of function - predicted
MLH1 H543R unknown
MLH1 hypermethylation unknown
MLH1 I107R loss of function
MLH1 I190T unknown
MLH1 I219V no effect
MLH1 I25T no effect - predicted
MLH1 I262M unknown
MLH1 I330del loss of function
MLH1 I565M unknown
MLH1 I630S unknown
MLH1 I68N loss of function - predicted
MLH1 inact mut loss of function
MLH1 K118N loss of function - predicted
MLH1 K241N unknown
MLH1 K254N unknown
MLH1 K443Q no effect
MLH1 K616del loss of function - predicted
MLH1 K618A unknown
MLH1 K618E unknown
MLH1 K618T unknown
MLH1 K84E loss of function
MLH1 L155P unknown
MLH1 L155R loss of function
MLH1 L507* loss of function - predicted
MLH1 L549P loss of function
MLH1 L550I unknown
MLH1 L550P unknown
MLH1 L555P loss of function
MLH1 L559R loss of function
MLH1 L574P loss of function
MLH1 L582F loss of function - predicted
MLH1 L582V loss of function - predicted
MLH1 L588P loss of function
MLH1 L588R unknown
MLH1 L590I unknown
MLH1 L622H unknown
MLH1 L636P loss of function - predicted
MLH1 L653R loss of function - predicted
MLH1 L658I unknown
MLH1 L749* loss of function
MLH1 L749P loss of function
MLH1 loss loss of function
MLH1 M35R loss of function - predicted
MLH1 M383V unknown
MLH1 M524I unknown
MLH1 M587V unknown
MLH1 mutant unknown
MLH1 N187Y unknown
MLH1 N338S no effect - predicted
MLH1 N38D loss of function
MLH1 N38H loss of function - predicted
MLH1 N38K loss of function - predicted
MLH1 N551S unknown
MLH1 N551T unknown
MLH1 negative loss of function PD-L1/PD-1 antibody Ipilimumab + Nivolumab
MLH1 P28L loss of function
MLH1 P403S no effect - predicted
MLH1 P578_E632del loss of function
MLH1 P581L no effect - predicted
MLH1 P640L loss of function - predicted
MLH1 P640S loss of function - predicted
MLH1 P648L unknown
MLH1 P648S unknown
MLH1 P654L loss of function
MLH1 P709Q unknown
MLH1 positive unknown
MLH1 Q26R unknown
MLH1 Q391R unknown
MLH1 Q48E unknown
MLH1 Q542L loss of function
MLH1 Q60P loss of function - predicted
MLH1 Q689R no effect
MLH1 R100* loss of function - predicted
MLH1 R100P loss of function
MLH1 R127K loss of function - predicted
MLH1 R217C unknown
MLH1 R226* loss of function - predicted
MLH1 R226Q unknown
MLH1 R265C loss of function
MLH1 R265S loss of function - predicted
MLH1 R325W unknown
MLH1 R385C no effect - predicted
MLH1 R389Q no effect - predicted
MLH1 R389W unknown
MLH1 R487* loss of function - predicted
MLH1 R487L unknown
MLH1 R497Gfs*11 loss of function - predicted
MLH1 R522Gfs*13 loss of function - predicted
MLH1 R575G unknown
MLH1 R659* loss of function - predicted
MLH1 R659L loss of function
MLH1 R659P loss of function
MLH1 R659Q no effect
MLH1 R687W no effect
MLH1 R725C unknown
MLH1 R725H unknown
MLH1 R755W loss of function - predicted
MLH1 R9Q unknown
MLH1 R9W loss of function - predicted
MLH1 S193P loss of function - predicted
MLH1 S247P loss of function
MLH1 S252* loss of function - predicted
MLH1 S271F unknown
MLH1 S368L unknown
MLH1 S44F loss of function
MLH1 S505Vfs*3 loss of function - predicted
MLH1 S508N unknown
MLH1 S677Rfs*15 loss of function - predicted
MLH1 S685F loss of function - predicted
MLH1 S698L unknown
MLH1 S93G no effect
MLH1 T117M loss of function
MLH1 T117R loss of function
MLH1 T347I unknown
MLH1 T45_I47delinsCF loss of function
MLH1 T81I unknown
MLH1 T82A loss of function
MLH1 V113D loss of function - predicted
MLH1 V16L unknown
MLH1 V180G loss of function - predicted
MLH1 V185G loss of function
MLH1 V194I unknown
MLH1 V213M no effect
MLH1 V326A unknown
MLH1 V384D loss of function
MLH1 V440M unknown
MLH1 V4A unknown
MLH1 V506A loss of function - predicted
MLH1 V612del loss of function - predicted
MLH1 V716M no effect
MLH1 W714* loss of function - predicted
MLH1 Y379C unknown
MLH1 Y646C no effect - predicted