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Gene | MLH1 |
Variant | S252* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 S252* results in a premature truncation of the Mlh1 protein at amino acid 252 of 756 (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), S252* is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 S252* |
Transcript | NM_000249.4 |
gDNA | chr3:g.37014509C>A |
cDNA | c.755C>A |
Protein | p.S252* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265161.2 | chr3:g.37020386_37020388delAGCinsTGA | c.754_756delAGCinsTGA | p.S252* | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37020386_37020388delAGCinsTGA | c.754_756delAGCinsTGA | p.S252* | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.37020386_37020388delAGCinsTGA | c.754_756delAGCinsTGA | p.S252* | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37014509C>A | c.755C>A | p.S252* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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