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Gene TSC2
Variant S1045F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 S1045F does not lie within any known functional domains of the Tsc2 protein (UniProt.org). S1045F retains the ability to form TSC complex, but results in reduced ability to inhibit S6k phosphorylation in culture (PMID: 31799751), and therefore, is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 S1045F

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Transcript NM_000548.5
gDNA chr16:g.2079278C>T
cDNA c.3134C>T
Protein p.S1045F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406676.1 chr16:g.2079427_2079428delAGinsTT c.3133_3134delAGinsTT p.S1045F RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2079278C>T c.3134C>T p.S1045F RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2079278C>T c.3134C>T p.S1045F RefSeq GRCh38/hg38
NM_001114382 chr16:g.2079278C>T c.3134C>T p.S1045F RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2079278C>T c.3134C>T p.S1045F RefSeq GRCh38/hg38
XM_011522636 chr16:g.2079278C>T c.3134C>T p.S1045F RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2079278C>T c.3134C>T p.S1045F RefSeq GRCh38/hg38
NM_000548 chr16:g.2079278C>T c.3134C>T p.S1045F RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2079278C>T c.3134C>T p.S1045F RefSeq GRCh38/hg38
NM_001406675.1 chr16:g.2079425_2079426delCGinsTT c.3134_3135delCGinsTT p.S1045F RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2079278C>T c.3134C>T p.S1045F RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries