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Gene MSH6
Variant T1219D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MSH6 T1219D lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1219D (corresponding to T1217D in mouse) retains the ability to recognize a DNA mismatch (PMID: 22277660, PMID: 15324697), results in protein expression, stability, subcellular localization, and Msh2 stability similar to wild-type Msh6, and mediates apoptosis in response to DNA damaging agents similar to wild-type Msh6 in cultured cells (PMID: 15324697) but results in loss of mismatch repair activity (PMID: 22277660, PMID: 15324697), acts as a dominant negative in in vitro assays (PMID: 22277660), and increases microsatellite instability in mouse cells (PMID: 15324697).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 T1219D

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Transcript NM_000179.3
gDNA chr2:g.47806212_47806213delACinsGA
cDNA c.3655_3656delACinsGA
Protein p.T1219D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38

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