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Results for the Protein: NP_001070651
116256350

tuberin isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  LYMPHANGIOLEIOMYOMATOSIS, SOMATIC
  LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, INCLUDED
  TUBEROUS SCLEROSIS 2
12
5
12
5
0
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Default View:

DUF3384 - pfam11864
Tuberin - pfam03542
Rap_GAP - pfam02145




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Rap_GAPpfam021453e-5314941683
DUF3384pfam118642.3e-14651472

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs45517323 Polymorphismp.ARG1262HISN/A
dbSNPrs1748 Polymorphismp.ASP1667GLUN/A
dbSNPrs62642481 Polymorphismp.GLU1240LYSN/A
dbSNPrs1800748 Polymorphismp.MET286VALN/A
dbSNPrs9209 Polymorphismp.SER1707THRN/A
OMIM191092.0006 Diseasep.ARG611GLNTUBEROUS SCLEROSIS 2||LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, INCLUDED
OMIM191092.0013 Diseasep.ARG905GLNTUBEROUS SCLEROSIS 2
OMIM191092.0015 Diseasep.ARG905GLYTUBEROUS SCLEROSIS 2
OMIM191092.0005 Diseasep.ARG505TERTUBEROUS SCLEROSIS 2
OMIM191092.0014 Diseasep.ARG905TRPTUBEROUS SCLEROSIS 2
OMIM191092.0011 Diseasep.GLN1436PROTUBEROUS SCLEROSIS 2
OMIM191092.0008 Diseasep.GLN478TERTUBEROUS SCLEROSIS 2
OMIM191092.0010 Diseasep.GLU366TERLYMPHANGIOLEIOMYOMATOSIS, SOMATIC
OMIM191092.0007 Diseasep.LEU717ARGTUBEROUS SCLEROSIS 2
OMIM191092.0003 Diseasep.LYS12TERTUBEROUS SCLEROSIS 2
OMIM191092.0009 Diseasep.PRO1608LEUTUBEROUS SCLEROSIS 2
OMIM191092.0017 Diseasep.TRP441TERTUBEROUS SCLEROSIS 2



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