Results for the protein: Q9NZ08

Results for the Protein: Q9NZ08

158937334

51752

ERAP1

NCBI, UniProt

ERAP1_HUMAN RecName: Full=Endoplasmic reticulum aminopeptidase 1; AltName: Full=ARTS-1; AltName: Full=Adipocyte-derived leucine aminopeptidase; Short=A-LAP; AltName: Full=Aminopeptidase PILS; AltName: Full=Puromycin-insensitive leucyl-specific aminopeptidase; Short=PILS-AP; AltName: Full=Type 1 tumor necrosis factor receptor shedding aminopeptidase regulator

			0 11 0 10 1

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Default View: PepN - COG0308 Peptidase_M1 - pfam01433	Swiss-Prot Protein: Q9NZ08 Identical to: NP_001035548, NP_001185470 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Peptidase_M1	pfam01433	6.4e-164	54	441

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17482078	Polymorphism	p.ARG725GLN	N/A
dbSNP	rs26653	Polymorphism	p.ARG127PRO	N/A
dbSNP	rs10050860	Polymorphism	p.ASP575ASN	N/A
Swiss-Prot	VAR_046682	Polymorphism	p.ASP575GLY	N/A
dbSNP	rs27044	Polymorphism	p.GLN730GLU	N/A
dbSNP	rs3734016	Polymorphism	p.GLU56LYS	N/A
dbSNP	rs27895	Polymorphism	p.GLY346ASP	N/A
dbSNP	rs26618	Polymorphism	p.ILE276MET	N/A
dbSNP	rs30187	Polymorphism	p.LYS528ARG	N/A
dbSNP	rs2287987	Polymorphism	p.MET349VAL	N/A
dbSNP	rs72773968	Polymorphism	p.THR12ILE	N/A

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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