Results for the protein: P00738

Results for the Protein: P00738

123508

3240

HP

NCBI, UniProt

HPT_HUMAN RecName: Full=Haptoglobin; AltName: Full=Zonulin; Contains: RecName: Full=Haptoglobin alpha chain; Contains: RecName: Full=Haptoglobin beta chain; Flags: Precursor

Known Diseases associated with this Protein:
ANHAPTOGLOBINEMIA (AHP)
ANHAPTOGLOBINEMIA, SUSCEPTIBILITY TO

2

3

1

0

4

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Default View: Tryp_SPc - smart00020 Trypsin - pfam00089 Tryp_SPc - cd00190	Swiss-Prot Protein: P00738 Identical to: NP_005134 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Trypsin	pfam00089	5.7e-76	162	399
Tryp_SPc	smart00020	3.2e-61	161	399

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005294	Polymorphism	p.ASN129ASP	N/A
Swiss-Prot	VAR_017114	Polymorphism	p.ASP397HIS	N/A
Swiss-Prot	VAR_017113	Polymorphism	p.GLU130LYS	N/A
Swiss-Prot	VAR_066214	Disease	p.ILE247THR	Anhaptoglobinemia (AHP)
OMIM	140100.0005	Disease	p.ILE247THR	ANHAPTOGLOBINEMIA, SUSCEPTIBILITY TO

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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