Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001155899
241666464

hamartin isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB
  LYMPHANGIOLEIOMYOMATOSIS
  TUBEROUS SCLEROSIS 1
  TUBEROUS SCLEROSIS 1, INCLUDED
6
1
6
1
0
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




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 ↕
dbSNPrs1073123 Polymorphismp.MET271THRN/A
OMIM605284.0006 Diseasep.CYS114TERLYMPHANGIOLEIOMYOMATOSIS
OMIM605284.0007 Diseasep.HIS681TYRFOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB||TUBEROUS SCLEROSIS 1, INCLUDED
OMIM605284.0009 Diseasep.LEU129PROTUBEROUS SCLEROSIS 1
OMIM605284.0002 Diseasep.LEU199TERTUBEROUS SCLEROSIS 1
OMIM605284.0003 Diseasep.LYS534ARGTUBEROUS SCLEROSIS 1
OMIM605284.0008 Diseasep.MET173ARGTUBEROUS SCLEROSIS 1



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