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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
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Default View:

Hamartin - pfam04388




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Hamartinpfam043882668

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



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