Results for the protein: P18440

Results for the Protein: P18440

114234

9

NAT1

NCBI, UniProt

ARY1_HUMAN RecName: Full=Arylamine N-acetyltransferase 1; AltName: Full=Arylamide acetylase 1; AltName: Full=Monomorphic arylamine N-acetyltransferase; Short=MNAT; AltName: Full=N-acetyltransferase type 1; Short=NAT-1

Known Diseases associated with this Protein:
NAT1*17 ALLELE

1

10

1

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Default View: NhoA - COG2162 Acetyltransf_2 - pfam00797	Swiss-Prot Protein: P18440 Identical to: NP_001153646, NP_000653, NP_001153643, NP_001153642, NP_001153651, NP_001153645, NP_001153644 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Acetyltransf_2	pfam00797	5.3e-155	20	280

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_009069	Polymorphism	p.ARG187GLN	N/A
Swiss-Prot	VAR_009510	Polymorphism	p.ARG117THR	N/A
Swiss-Prot	VAR_004606	Polymorphism	p.ARG64TRP	N/A
Swiss-Prot	VAR_009072	Polymorphism	p.ASP251VAL	N/A
Swiss-Prot	VAR_009073	Polymorphism	p.GLU261LYS	N/A
Swiss-Prot	VAR_009074	Polymorphism	p.ILE263VAL	N/A
Swiss-Prot	VAR_009070	Polymorphism	p.MET205VAL	N/A
dbSNP	rs4986783	Polymorphism	p.SER214ALA	N/A
Swiss-Prot	VAR_020384	Polymorphism	p.THR207ILE	N/A
Swiss-Prot	VAR_004607	Polymorphism	p.VAL149ILE	N/A
OMIM	108345.0002	Disease	p.VAL87ILE	NAT1*17 ALLELE

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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