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Gene | MLH1 |
Variant | R100P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 R100P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R100P results in Pms2 and Mlh1 expression comparable to wild-type in culture (PMID: 36054288) but confers a loss of function to the Mlh1 protein as demonstrated by loss of mismatch repair (MMR) activity in an in vitro assay (PMID: 17510385) and in culture (PMID: 36054288), increased Mlh1 degradation, and decreased Pms2 interaction compared to wild-type in cell culture (PMID: 31697235). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 R100P |
Transcript | NM_000249.4 |
gDNA | chr3:g.37001046G>C |
cDNA | c.299G>C |
Protein | p.R100P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047448155.1 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_001258274.2 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_001167619 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354618.1 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001258274 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
XM_005265163 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354615.2 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354617.1 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354616.2 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354619.2 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001167618.3 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001167618 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354617.2 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
XM_047448154.1 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
XM_005265164 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_001167619.3 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354618.2 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354619.1 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354615.1 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
XM_047448153.1 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37001046G>C | c.299G>C | p.R100P | RefSeq | GRCh38/hg38 |
NM_001258273 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001354616.1 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001167619.2 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001258273.2 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001258274.3 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001258273.1 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
NM_001167618.2 | chr3:g.37020446_37020447delAGinsCC | c.298_299delAGinsCC | p.R100P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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