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Gene | MLH1 |
Variant | P648S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 P648S lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). P648S results in decreased Mlh1 protein expression in cell culture (PMID: 21120944, PMID: 16083711), and reduced Pms2 binding in an in vitro assay (PMID: 16724012), but demonstrates proficient mismatch repair activity in in vitro assays (PMID: 21120944, PMID: 16083711, PMID: 15139004), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 P648S |
Transcript | NM_000249.4 |
gDNA | chr3:g.37048562C>T |
cDNA | c.1942C>T |
Protein | p.P648S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37048562C>T | c.1942C>T | p.P648S | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37048562C>T | c.1942C>T | p.P648S | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37048562C>T | c.1942C>T | p.P648S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 P648S | unknown |