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Gene MLH1
Variant E633_E663del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions MLH1 E633_E663del results in deletion of 31 amino acids within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein from aa 633 to aa 663 (PMID: 22753075). E633_E663del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay, reduced Pms2 interaction, altered subcellular localization, and reduced protein expression as compared to wild-type (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 E633_E663del

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Transcript NM_000249.4
gDNA chr3:g.37048518_37048610del93
cDNA c.1898_1989+1del93
Protein p.E633_E663del31
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271 chr3:g.37050486_37050578del93 c.1897_1989del93 p.S633_K663del31 RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37048977_37050537del1561 c.1898_1990del1561 p.K633_H663del31 RefSeq GRCh38/hg38
XM_005265161 chr3:g.37050486_37050578del93 c.1897_1989del93 p.S633_K663del31 RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37050486_37050578del93 c.1897_1989del93 p.S633_K663del31 RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37048910_37049002del93 c.1897_1989del93 p.W633_T663del31 RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37048977_37050537del1561 c.1898_1990del1561 p.K633_H663del31 RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.37048910_37049002del93 c.1897_1989del93 p.W633_T663del31 RefSeq GRCh38/hg38
NM_000249 chr3:g.37048518_37048610del93 c.1898_1989+1del93 p.E633_E663del31 RefSeq GRCh38/hg38
XM_047448152.1 chr3:g.37048910_37049002del93 c.1897_1989del93 p.W633_T663del31 RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37048518_37048610del93 c.1898_1989+1del93 p.E633_E663del31 RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37050486_37050578del93 c.1897_1989del93 p.S633_K663del31 RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37048518_37048610del93 c.1898_1989+1del93 p.E633_E663del31 RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37048904_37048996del93 c.1897_1989del93 p.V633_E663del31 RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37050486_37050578del93 c.1897_1989del93 p.S633_K663del31 RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37050486_37050578del93 c.1897_1989del93 p.S633_K663del31 RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37048904_37048996del93 c.1897_1989del93 p.V633_E663del31 RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries