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Gene MLH1
Variant R226*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 R226* results in a premature truncation of the Mlh1 protein at amino acid 226 of 756 (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), R226* is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 R226*

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Transcript NM_000249.4
gDNA chr3:g.37012098C>T
cDNA c.676C>T
Protein p.R226*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265161 chr3:g.37012098_37020310delCGTinsTGA c.676_678delCGTinsTGA p.R226* RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37012098_37020310delCGTinsTGA c.676_678delCGTinsTGA p.R226* RefSeq GRCh38/hg38
NM_000249 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37012098_37020310delCGTinsTGA c.676_678delCGTinsTGA p.R226* RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38
NM_001258271 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37012098C>T c.676C>T p.R226* RefSeq GRCh38/hg38

Filtering

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Sorting

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Molecular Profile Protein Effect Treatment Approaches
MLH1 R226* loss of function - predicted