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| Gene | TSC1 |
| Variant | E636fs |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | TSC1 E636fs results in a change in the amino acid sequence of the Tsc1 protein beginning at aa 636 of 1164, likely resulting in premature truncation of the functional protein (UniProt.org). E636fs has not been characterized however, due to the effects of other truncation mutations downstream of E636 (PMID: 11875047, PMID: 20547222), is predicted to lead to a loss of Tsc1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TSC1 mutant TSC1 inact mut TSC1 E636fs |
| Transcript | NM_000368.5 |
| gDNA | chr9:g.(132905672_132905673) |
| cDNA | c.(1906_1905) |
| Protein | p.E636fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000368.4 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406603.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406602.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001162427.1 | chr9:g.(132903800_132903801) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406614.1 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406616.1 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406618.1 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406630.1 | chr9:g.(132897200_132897201) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406629.1 | chr9:g.(132897200_132897201) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406596.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406615.1 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015100 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_011518979 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406617.1 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406601.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_011518979.2 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_000368 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001162426 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406605.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406597.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406599.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_000368.5 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001162426.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015099.1 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_011518979.3 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406598.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015100.1 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406593.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015099 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015097.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_006717271.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406607.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406594.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406592.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015098.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406595.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406600.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406609.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001362177.2 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015097 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001162426.2 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406604.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406610.1 | chr9:g.(132903800_132903801) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406619.1 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001162427 | chr9:g.(132903800_132903801) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015096 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_006717271 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001162427.2 | chr9:g.(132903800_132903801) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406624.1 | chr9:g.(132902727_132902728) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015098 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_005272211.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406606.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_005272211 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| XM_017015096.1 | chr9:g.(132905672_132905673) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| NM_001406608.1 | chr9:g.(132905669_132905670) | c.(1906_1905) | p.E636fs | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|