Results for the protein: Q30201

Results for the Protein: Q30201

2497915

3077

HFE

NCBI, UniProt

HFE_HUMAN RecName: Full=Hereditary hemochromatosis protein; AltName: Full=HLA-H; Flags: Precursor

Known Diseases associated with this Protein:
  HEMOCHROMATOSIS 1 (HFE1)
  HEMOCHROMATOSIS, TYPE 1
  MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7, INCLUDED
  PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO, INCLUDED;;
  PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO,

20

8

8

2

18

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Default View: C1-set - pfam07654 IGc1 - smart00407	Swiss-Prot Protein: Q30201 Identical to: NP_000401 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IGc1	smart00407	1.2e-14	220	292

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_042509	Polymorphism	p.ALA176VAL	N/A
Swiss-Prot	VAR_042508	Disease	p.ARG66CYS	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_062279	Polymorphism	p.ARG224GLN	N/A
Swiss-Prot	VAR_042510	Disease	p.ARG224GLY	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_008114	Disease	p.ARG330MET	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_042506	Disease	p.ARG6SER	Hemochromatosis 1 (HFE1)
dbSNP	rs1800562	Polymorphism	p.CYS282TYR	N/A
Swiss-Prot	VAR_004398	Disease	p.CYS282TYR	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_008113	Disease	p.GLN127HIS	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_037304	Disease	p.GLN283PRO	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_008731	Polymorphism	p.GLU277LYS	N/A
Swiss-Prot	VAR_008729	Disease	p.GLY93ARG	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_042507	Disease	p.GLY43ASP	Hemochromatosis 1 (HFE1)
dbSNP	rs1799945	Polymorphism	p.HIS63ASP	N/A
Swiss-Prot	VAR_008730	Disease	p.ILE105THR	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_004397	Disease	p.SER65CYS	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_020270	Polymorphism	p.THR217ILE	N/A
Swiss-Prot	VAR_042511	Disease	p.VAL295ALA	Hemochromatosis 1 (HFE1)
Swiss-Prot	VAR_008111	Polymorphism	p.VAL53MET	N/A
Swiss-Prot	VAR_008112	Polymorphism	p.VAL59MET	N/A
OMIM	613609.0008	Disease	p.ARG330MET	HEMOCHROMATOSIS, TYPE 1
OMIM	613609.0001	Disease	p.CYS282TYR	HEMOCHROMATOSIS, TYPE 1\|\|PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO, INCLUDED;;\|\|PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO,
OMIM	613609.0007	Disease	p.GLN127HIS	HEMOCHROMATOSIS, TYPE 1
OMIM	613609.0011	Disease	p.GLN283PRO	HEMOCHROMATOSIS, TYPE 1
OMIM	613609.0010	Disease	p.GLY93ARG	HEMOCHROMATOSIS, TYPE 1
OMIM	613609.0002	Disease	p.HIS63ASP	HEMOCHROMATOSIS, TYPE 1\|\|MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7, INCLUDED
OMIM	613609.0009	Disease	p.ILE105THR	HEMOCHROMATOSIS, TYPE 1
OMIM	613609.0003	Disease	p.SER65CYS	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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