Results for the protein: Q9UP52

Results for the Protein: Q9UP52

20140912

7036

TFR2

NCBI, UniProt

TFR2_HUMAN RecName: Full=Transferrin receptor protein 2; Short=TfR2

Known Diseases associated with this Protein:
  HEMOCHROMATOSIS 3 (HFE3)
  HEMOCHROMATOSIS, TYPE 1, MODIFIER OF
  HEMOCHROMATOSIS, TYPE 3

7

4

4

1

6

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: PA_GCPII_like - cd02121 PA_TfR - cd02128 PA - cd00538 Iap - COG2234 PA_hNAALADL2_like - cd02131 PA - pfam02225 Peptidase_M28 - pfam04389 TFR_dimer - pfam04253	Swiss-Prot Protein: Q9UP52 Identical to: NP_003218 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PA_TfR	cd02128	2.4e-137	211	401
PA	cd00538	7.6e-14	212	401
PA_hNAALADL2_like	cd02131	7.9e-05	228	382
Iap	COG2234	0.00093	223	669
PA	pfam02225	4.7e-11	236	331
Peptidase_M28	pfam04389	8.7e-08	425	612
TFR_dimer	pfam04253	1.8e-45	668	793

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_042516	Polymorphism	p.ARG455GLN	N/A
Swiss-Prot	VAR_034124	Polymorphism	p.ARG752HIS	N/A
Swiss-Prot	VAR_034122	Polymorphism	p.ASP230GLU	N/A
Swiss-Prot	VAR_042517	Disease	p.GLN690PRO	Hemochromatosis 3 (HFE3)
dbSNP	rs34242818	Polymorphism	p.ILE238MET	N/A
Swiss-Prot	VAR_012738	Disease	p.MET172LYS	Hemochromatosis 3 (HFE3)
Swiss-Prot	VAR_042515	Disease	p.VAL22ILE	Hemochromatosis 3 (HFE3)
OMIM	604720.0004	Disease	p.ARG455GLN	HEMOCHROMATOSIS, TYPE 1, MODIFIER OF
OMIM	604720.0005	Disease	p.GLN690PRO	HEMOCHROMATOSIS, TYPE 3
OMIM	604720.0003	Disease	p.MET172LYS	HEMOCHROMATOSIS, TYPE 3
OMIM	604720.0001	Disease	p.TYR250TER	HEMOCHROMATOSIS, TYPE 3

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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