Results for the protein: NP

Results for the Protein: NP_620576

21040349

3077

HFE

NCBI

hereditary hemochromatosis protein isoform 7 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  HEMOCHROMATOSIS, TYPE 1
  PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO, INCLUDED;;
  PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO,

4

1

4

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: 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_620576 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IgC_MHC_I_alpha3	cd07698	3.2e-38	118	210
IgC_MHC_II_alpha	cd05767	3.4e-08	119	210
IgC_beta2m	cd05770	1.3e-06	119	210
IgC_MHC_II_beta	cd05766	8.8e-14	120	211
IgC	cd00098	5e-23	122	210
Ig	cd00096	8.3e-06	133	217
MHC_I	pfam00129	1.2e-06	1	114
C1-set	pfam07654	1.4e-19	124	206
IGc1	smart00407	1.2e-14	132	204

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1800562	Polymorphism	p.CYS194TYR	N/A
OMIM	613609.0008	Disease	p.ARG242MET	HEMOCHROMATOSIS, TYPE 1
OMIM	613609.0001	Disease	p.CYS194TYR	HEMOCHROMATOSIS, TYPE 1\|\|PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO, INCLUDED;;\|\|PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO,
OMIM	613609.0007	Disease	p.GLN39HIS	HEMOCHROMATOSIS, TYPE 1
OMIM	613609.0011	Disease	p.GLN195PRO	HEMOCHROMATOSIS, TYPE 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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