Results for the protein: Q9NP59

Results for the Protein: Q9NP59

48428687

30061

SLC40A1

NCBI, UniProt

S40A1_HUMAN RecName: Full=Solute carrier family 40 member 1; AltName: Full=Ferroportin-1; AltName: Full=Iron-regulated transporter 1

Known Diseases associated with this Protein:
HEMOCHROMATOSIS 4 (HFE4)
HEMOCHROMATOSIS, TYPE 4

20

8

8

3

17

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Default View: FPN1 - pfam06963	Swiss-Prot Protein: Q9NP59 Identical to: NP_055400 Default View:

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 ↕
Swiss-Prot	VAR_022594	Disease	p.ALA77ASP	Hemochromatosis 4 (HFE4)
dbSNP	rs11568346	Polymorphism	p.ARG561GLY	N/A
Swiss-Prot	VAR_030060	Disease	p.ASN144ASP	Hemochromatosis 4 (HFE4)
Swiss-Prot	VAR_022595	Disease	p.ASN144HIS	Hemochromatosis 4 (HFE4)
Swiss-Prot	VAR_030062	Polymorphism	p.ASN174ILE	N/A
Swiss-Prot	VAR_030061	Disease	p.ASN144THR	Hemochromatosis 4 (HFE4)
Swiss-Prot	VAR_022596	Disease	p.ASP157GLY	Hemochromatosis 4 (HFE4)
Swiss-Prot	VAR_030063	Disease	p.ASP181VAL	Hemochromatosis 4 (HFE4)
Swiss-Prot	VAR_030065	Disease	p.ASP270VAL	Hemochromatosis 4 (HFE4)
Swiss-Prot	VAR_030066	Polymorphism	p.CYS326TYR	N/A
Swiss-Prot	VAR_022598	Disease	p.GLN182HIS	Hemochromatosis 4 (HFE4)
dbSNP	rs11568350	Polymorphism	p.GLN248HIS	N/A
Swiss-Prot	VAR_030064	Disease	p.GLY267ASP	Hemochromatosis 4 (HFE4)
Swiss-Prot	VAR_030067	Polymorphism	p.GLY490ASP	N/A
Swiss-Prot	VAR_030058	Polymorphism	p.GLY80SER	N/A
Swiss-Prot	VAR_022599	Disease	p.GLY323VAL	Hemochromatosis 4 (HFE4)
Swiss-Prot	VAR_030059	Disease	p.GLY80VAL	Hemochromatosis 4 (HFE4)
dbSNP	rs11568355	Polymorphism	p.MET432VAL	N/A
Swiss-Prot	VAR_029299	Polymorphism	p.PRO443LEU	N/A
Swiss-Prot	VAR_030057	Disease	p.TYR64ASN	Hemochromatosis 4 (HFE4)
OMIM	604653.0002	Disease	p.ALA77ASP	HEMOCHROMATOSIS, TYPE 4
OMIM	604653.0001	Disease	p.ASN144HIS	HEMOCHROMATOSIS, TYPE 4
OMIM	604653.0004	Disease	p.ASP157GLY	HEMOCHROMATOSIS, TYPE 4
OMIM	604653.0007	Disease	p.ASP181VAL	HEMOCHROMATOSIS, TYPE 4
OMIM	604653.0005	Disease	p.GLN182HIS	HEMOCHROMATOSIS, TYPE 4
OMIM	604653.0009	Disease	p.GLY267ASP	HEMOCHROMATOSIS, TYPE 4
OMIM	604653.0006	Disease	p.GLY323VAL	HEMOCHROMATOSIS, TYPE 4
OMIM	604653.0008	Disease	p.GLY80VAL	HEMOCHROMATOSIS, TYPE 4

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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