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Gene | MLH1 |
Variant | E703A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 E703A lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). E703A has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 E703A |
Transcript | NM_000249.4 |
gDNA | chr3:g.37050490A>C |
cDNA | c.2108A>C |
Protein | p.E703A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354629.2 | chr3:g.37050589A>C | c.2108A>C | p.E703A | RefSeq | GRCh38/hg38 |
XM_047448152.1 | chr3:g.37050589A>C | c.2108A>C | p.E703A | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37050490A>C | c.2108A>C | p.E703A | RefSeq | GRCh38/hg38 |
NM_001354629.1 | chr3:g.37050589A>C | c.2108A>C | p.E703A | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37050490A>C | c.2108A>C | p.E703A | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37050490A>C | c.2108A>C | p.E703A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 E703A | unknown |