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Gene | MLH1 |
Variant | I501del |
Impact List | deletion |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MLH1 I501del results in the deletion of an amino acid in the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein at amino acid 501 (PMID: 22753075). I501del results in protein expression comparable to wild-type in culture and mismatch repair activity comparable to wild-type in an in vitro assay (PMID: 29520894), and therefore, is predicted to have no effect on Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 I501del |
Transcript | NM_000249.4 |
gDNA | chr3:g.37028876_37028878delTTA |
cDNA | c.1502_1504delTTA |
Protein | p.I501del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.37028876_37028878delTTA | c.1502_1504delTTA | p.I501del | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37028876_37028878delTTA | c.1502_1504delTTA | p.I501del | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37028876_37028878delTTA | c.1502_1504delTTA | p.I501del | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37028876_37028878delTTA | c.1502_1504delTTA | p.I501del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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