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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 |
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 |
---|---|---|---|---|---|
XM_005265161.2 | chr3:g.37050486_37050578del93 | c.1897_1989del93 | p.S633_K663del31 | 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_001258271.2 | 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 |
NM_001354629.2 | chr3:g.37048910_37049002del93 | c.1897_1989del93 | p.W633_T663del31 | RefSeq | GRCh38/hg38 |
XM_047448152.1 | chr3:g.37048910_37049002del93 | c.1897_1989del93 | p.W633_T663del31 | RefSeq | GRCh38/hg38 |
NM_001258271 | 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 |
XM_005265161 | chr3:g.37050486_37050578del93 | c.1897_1989del93 | p.S633_K663del31 | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37048977_37050537del1561 | c.1898_1990del1561 | p.K633_H663del31 | RefSeq | GRCh38/hg38 |
NM_000249 | 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_000249.3 | chr3:g.37048518_37048610del93 | c.1898_1989+1del93 | p.E633_E663del31 | RefSeq | GRCh38/hg38 |
NM_001258271.1 | 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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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