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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
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Hamartin - pfam04388


Swiss-Prot Protein: Q92574
Identical to: NP_000359
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Hamartinpfam043882719

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



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