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Gene MSH6
Variant L449P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 L449P lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). L449P (corresponds to L448P in mouse) results in impaired mismatch binding and deficient mismatch repair activity in in vitro assays (PMID: 31965077), and therefore, is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 L449P

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Transcript NM_000179.3
gDNA chr2:g.47799329T>C
cDNA c.1346T>C
Protein p.L449P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406813.1 chr2:g.47799323T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_000179 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799329T>C c.1346T>C p.L449P RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References