Results for the protein: P01011

Results for the Protein: P01011

112874

12

SERPINA3

NCBI, UniProt

AACT_HUMAN RecName: Full=Alpha-1-antichymotrypsin; Short=ACT; AltName: Full=Cell growth-inhibiting gene 24/25 protein; AltName: Full=Serpin A3; Contains: RecName: Full=Alpha-1-antichymotrypsin His-Pro-less; Flags: Precursor

Known Diseases associated with this Protein:
  ANTICHYMOTRYPSIN BOCHUM 1
  ANTICHYMOTRYPSIN BONN 1
  ANTICHYMOTRYPSIN ISEHARA 1

3

8

3

2

6

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Swiss-Prot Protein: P01011

Identical to: NP_001076

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PEDF	cd02052	5.8e-16	35	420
PAI-1_nexin-1	cd02051	1.8e-29	43	420
antithrombin-III_lik	cd02045	4.5e-55	47	417
hsp47	cd02046	4.3e-24	47	417
PZI	cd02055	1.1e-48	48	417
bacterial_SERPIN	cd02049	1e-68	49	417
alpha2AP	cd02053	4.4e-17	49	417
ov-serpin	cd02044	5.7e-61	49	420
maspin_like	cd02057	2.1e-20	49	420
PAI-2	cd02058	3.4e-47	49	420
ovalbumin_like	cd02059	2.3e-61	49	420
neuroserpin	cd02048	1.1e-51	50	423
plant_SERPIN	cd02043	2.1e-22	51	420
SERPIN	cd00172	2e-148	52	417
C1_inh	cd02050	3.5e-18	52	417
angiotensinogen	cd02054	2.3e-13	52	420
alpha-1-antitrypsin_	cd02056	1.4e-253	52	417
COG4826	COG4826	8.1e-51	1	421
Serpin	pfam00079	5.1e-164	51	420
SERPIN	smart00093	2.9e-203	58	420

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006975	Polymorphism	p.ALA167GLY	N/A
dbSNP	rs4934	Polymorphism	p.ALA9THR	N/A
dbSNP	rs56871159	Polymorphism	p.ARG3LYS	N/A
Swiss-Prot	VAR_011742	Polymorphism	p.ASP407GLY	N/A
Swiss-Prot	VAR_006974	Polymorphism	p.LEU78PRO	N/A
Swiss-Prot	VAR_037902	Polymorphism	p.LYS267ARG	N/A
Swiss-Prot	VAR_006977	Polymorphism	p.MET401VAL	N/A
Swiss-Prot	VAR_006976	Polymorphism	p.PRO252ALA	N/A
OMIM	107280.0003	Disease	p.LEU55PRO	ANTICHYMOTRYPSIN BOCHUM 1
OMIM	107280.0001	Disease	p.MET389VAL	ANTICHYMOTRYPSIN ISEHARA 1
OMIM	107280.0004	Disease	p.PRO229ALA	ANTICHYMOTRYPSIN BONN 1

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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