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Gene TSC1
Variant P590S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 P590S lies within the region of the Tsc1 protein that mediates interaction with WDR45B (UniProt.org). P590S has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 P590S

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Transcript NM_000368.5
gDNA chr9:g.132905810G>A
cDNA c.1768C>T
Protein p.P590S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000368.5 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_006717271 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.132905657G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_017015097 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_011518979 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_017015096 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_017015098 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_000368 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.132905657G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001162427 chr9:g.132905657G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001162426 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_005272211 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.132905657G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132905810G>A c.1768C>T p.P590S RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132905807G>A c.1768C>T p.P590S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries