Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q92574
9297077

TSC1_HUMAN RecName: Full=Hamartin; AltName: Full=Tuberous sclerosis 1 protein

Known Diseases associated with this Protein:
  FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB
  LYMPHANGIOLEIOMYOMATOSIS
  TUBEROUS SCLEROSIS 1
  TUBEROUS SCLEROSIS 1 (TSC1)
  TUBEROUS SCLEROSIS 1, INCLUDED
11
17
6
1
21
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Hamartin - pfam04388


Swiss-Prot Protein: Q92574
Identical to: NP_000359
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009408Diseasep.ALA726GLUTuberous sclerosis 1 (TSC1)
Swiss-ProtVAR_054391Diseasep.ARG500GLNTuberous sclerosis 1 (TSC1)
Swiss-ProtVAR_009398Polymorphismp.ARG190SERN/A
Swiss-ProtVAR_009407Diseasep.GLN654GLUTuberous sclerosis 1 (TSC1)
Swiss-ProtVAR_009397Polymorphismp.GLU51ASPN/A
Swiss-ProtVAR_009404Polymorphismp.GLU577ASPN/A
Swiss-ProtVAR_009410Polymorphismp.GLU809GLNN/A
Swiss-ProtVAR_009413Polymorphismp.GLY1035SERN/A
Swiss-ProtVAR_009414Polymorphismp.GLY1108SERN/A
Swiss-ProtVAR_054386Polymorphismp.HIS68ARGN/A
Swiss-ProtVAR_054389Polymorphismp.HIS206ASPN/A
Swiss-ProtVAR_009409Polymorphismp.HIS732TYRN/A
Swiss-ProtVAR_009399Polymorphismp.LEU191HISN/A
Swiss-ProtVAR_054387Diseasep.LEU72PROTuberous sclerosis 1 (TSC1)
Swiss-ProtVAR_009406Polymorphismp.LYS587ARGN/A
Swiss-ProtVAR_009401Polymorphismp.MET224ARGN/A
dbSNPrs1073123 Polymorphismp.MET322THRN/A
Swiss-ProtVAR_054388Polymorphismp.PHE158CYSN/A
Swiss-ProtVAR_054390Polymorphismp.PHE216LEUN/A
Swiss-ProtVAR_009411Polymorphismp.SER829ARGN/A
Swiss-ProtVAR_009403Polymorphismp.THR417ILEN/A
Swiss-ProtVAR_009412Diseasep.THR899SERTuberous sclerosis 1 (TSC1)
OMIM605284.0006 Diseasep.CYS165TERLYMPHANGIOLEIOMYOMATOSIS
OMIM605284.0007 Diseasep.HIS732TYRFOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB||TUBEROUS SCLEROSIS 1, INCLUDED
OMIM605284.0009 Diseasep.LEU180PROTUBEROUS SCLEROSIS 1
OMIM605284.0002 Diseasep.LEU250TERTUBEROUS SCLEROSIS 1
OMIM605284.0003 Diseasep.LYS585ARGTUBEROUS SCLEROSIS 1
OMIM605284.0008 Diseasep.MET224ARGTUBEROUS SCLEROSIS 1



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258