Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_620578
21040353
HFE

hereditary hemochromatosis protein isoform 9 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  HEMOCHROMATOSIS, TYPE 1
  MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7, INCLUDED
  PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO, INCLUDED;;
  PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO,
8
2
8
2
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:

MHC_I - pfam00129
IgC_Tapasin_R - cd05771
IgC_MHC_I_alpha3 - cd07698
IgC_MHC_II_alpha - cd05767
IgC_beta2m - cd05770
IgC_MHC_II_beta - cd05766
IgC - cd00098
C1-set - pfam07654
IGc1 - smart00407
Ig - cd00096


RefSeq Protein: NP_620578
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IgC_MHC_I_alpha3cd076983.2e-38183275
IgC_MHC_II_alphacd057673.4e-08184275
IgC_beta2mcd057701.3e-06184275
IgC_MHC_II_betacd057668.8e-14185276
IgCcd000985e-23187275
Igcd000968.3e-06198282
MHC_Ipfam001295.9e-418179
C1-setpfam076541.4e-19189271
IGc1smart004071.2e-14197269

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1800562 Polymorphismp.CYS259TYRN/A
dbSNPrs1799945 Polymorphismp.HIS40ASPN/A
OMIM613609.0008 Diseasep.ARG307METHEMOCHROMATOSIS, TYPE 1
OMIM613609.0001 Diseasep.CYS259TYRHEMOCHROMATOSIS, TYPE 1||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO, INCLUDED;;||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO,
OMIM613609.0007 Diseasep.GLN104HISHEMOCHROMATOSIS, TYPE 1
OMIM613609.0011 Diseasep.GLN260PROHEMOCHROMATOSIS, TYPE 1
OMIM613609.0010 Diseasep.GLY70ARGHEMOCHROMATOSIS, TYPE 1
OMIM613609.0002 Diseasep.HIS40ASPHEMOCHROMATOSIS, TYPE 1||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7, INCLUDED
OMIM613609.0009 Diseasep.ILE82THRHEMOCHROMATOSIS, TYPE 1
OMIM613609.0003 Diseasep.SER42CYSHEMOCHROMATOSIS, TYPE 1



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