Results for the protein: P12821

Results for the Protein: P12821

113045

1636

ACE

NCBI, UniProt

ACE_HUMAN RecName: Full=Angiotensin-converting enzyme; Short=ACE; AltName: Full=Dipeptidyl carboxypeptidase I; AltName: Full=Kininase II; AltName: CD_antigen=CD143; Contains: RecName: Full=Angiotensin-converting enzyme, soluble form; Flags: Precursor

Known Diseases associated with this Protein:
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
RENAL TUBULAR DYSGENESIS

4

21

4

5

16

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: Peptidase_M2 - pfam01401 M2_ACE - cd06461 M3_like - cd06258	Swiss-Prot Protein: P12821 Identical to: NP_000780 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
M3_like	cd06258	2.5e-29	201	603
M2_ACE	cd06461		738	1212
M3_like	cd06258	7.8e-43	799	1201
Peptidase_M2	pfam01401		31	630
Peptidase_M2	pfam01401		634	1228

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4303	Polymorphism	p.ALA261SER	N/A
Swiss-Prot	VAR_029139	Polymorphism	p.ALA154THR	N/A
Swiss-Prot	VAR_029140	Polymorphism	p.ALA183THR	N/A
Swiss-Prot	VAR_054000	Polymorphism	p.ARG260CYS	N/A
Swiss-Prot	VAR_014191	Polymorphism	p.ARG1279GLN	N/A
Swiss-Prot	VAR_029141	Polymorphism	p.ARG379GLN	N/A
Swiss-Prot	VAR_054001	Polymorphism	p.ARG260LEU	N/A
Swiss-Prot	VAR_011709	Polymorphism	p.ARG1286SER	N/A
Swiss-Prot	VAR_011708	Polymorphism	p.ARG561TRP	N/A
dbSNP	rs12709426	Polymorphism	p.ASP592GLY	N/A
Swiss-Prot	VAR_014192	Polymorphism	p.GLN1296PRO	N/A
Swiss-Prot	VAR_035434	Polymorphism	p.GLY354ARG	N/A
dbSNP	rs4976	Polymorphism	p.ILE1018THR	N/A
dbSNP	rs13306091	Polymorphism	p.MET828THR	N/A
Swiss-Prot	VAR_014190	Polymorphism	p.PHE1051VAL	N/A
Swiss-Prot	VAR_023434	Polymorphism	p.PRO1228LEU	N/A
dbSNP	rs2229839	Polymorphism	p.PRO351LEU	N/A
Swiss-Prot	VAR_023433	Polymorphism	p.THR1187MET	N/A
Swiss-Prot	VAR_023432	Polymorphism	p.THR916MET	N/A
Swiss-Prot	VAR_023430	Polymorphism	p.TYR244CYS	N/A
Swiss-Prot	VAR_029142	Polymorphism	p.VAL524ALA	N/A
OMIM	106180.0005	Disease	p.ARG496TER	RENAL TUBULAR DYSGENESIS
OMIM	106180.0006	Disease	p.ARG791TER	RENAL TUBULAR DYSGENESIS
OMIM	106180.0002	Disease	p.PRO1199LEU	ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
OMIM	106180.0003	Disease	p.TYR266TER	RENAL TUBULAR DYSGENESIS

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258