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Gene | TSC2 |
Variant | T1059Nfs*109 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TSC2 T1059Nfs*109 indicates a shift in the reading frame starting at amino acid 1059 and terminating 109 residues downstream causing a premature truncation of the 1807 amino acid Tsc2 protein (UniProt.org). T1059Nfs*109 has not been characterized however, due to the effects of other truncation mutations downstream of T1059 (PMID: 22903760), is predicted to lead to a loss of Tsc2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 inact mut TSC2 T1059Nfs*109 |
Transcript | NM_000548.5 |
gDNA | chr16:g.2079319dupA |
cDNA | c.3175dupA |
Protein | p.T1059Nfs*109 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548.5 | chr16:g.2079319dupA | c.3175dupA | p.T1059Nfs*109 | RefSeq | GRCh38/hg38 |
NM_001406684.1 | chr16:g.(2081762_2084398) | c.(3175_3504) | p.T1059Nfs*109 | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2079319dupA | c.3175dupA | p.T1059Nfs*109 | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2079319dupA | c.3175dupA | p.T1059Nfs*109 | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2079319dupA | c.3175dupA | p.T1059Nfs*109 | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.2079319dupA | c.3175dupA | p.T1059Nfs*109 | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2079319dupA | c.3175dupA | p.T1059Nfs*109 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TSC2 T1059Nfs*109 | loss of function - predicted | mTOR Inhibitor mTORC1 Inhibitor |