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Results for the Protein: P12821
113045
ACE

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
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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 ↕
M2_ACEcd06461138614
M3_likecd062582.5e-29201603
M2_ACEcd064617381212
M3_likecd062587.8e-437991201
Peptidase_M2pfam0140131630
Peptidase_M2pfam014016341228

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4303 Polymorphismp.ALA261SERN/A
Swiss-ProtVAR_029139Polymorphismp.ALA154THRN/A
Swiss-ProtVAR_029140Polymorphismp.ALA183THRN/A
Swiss-ProtVAR_054000Polymorphismp.ARG260CYSN/A
Swiss-ProtVAR_014191Polymorphismp.ARG1279GLNN/A
Swiss-ProtVAR_029141Polymorphismp.ARG379GLNN/A
Swiss-ProtVAR_054001Polymorphismp.ARG260LEUN/A
Swiss-ProtVAR_011709Polymorphismp.ARG1286SERN/A
Swiss-ProtVAR_011708Polymorphismp.ARG561TRPN/A
dbSNPrs12709426 Polymorphismp.ASP592GLYN/A
Swiss-ProtVAR_014192Polymorphismp.GLN1296PRON/A
Swiss-ProtVAR_035434Polymorphismp.GLY354ARGN/A
dbSNPrs4976 Polymorphismp.ILE1018THRN/A
dbSNPrs13306091 Polymorphismp.MET828THRN/A
Swiss-ProtVAR_014190Polymorphismp.PHE1051VALN/A
Swiss-ProtVAR_023434Polymorphismp.PRO1228LEUN/A
dbSNPrs2229839 Polymorphismp.PRO351LEUN/A
Swiss-ProtVAR_023433Polymorphismp.THR1187METN/A
Swiss-ProtVAR_023432Polymorphismp.THR916METN/A
Swiss-ProtVAR_023430Polymorphismp.TYR244CYSN/A
Swiss-ProtVAR_029142Polymorphismp.VAL524ALAN/A
OMIM106180.0005 Diseasep.ARG496TERRENAL TUBULAR DYSGENESIS
OMIM106180.0006 Diseasep.ARG791TERRENAL TUBULAR DYSGENESIS
OMIM106180.0002 Diseasep.PRO1199LEUANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
OMIM106180.0003 Diseasep.TYR266TERRENAL TUBULAR DYSGENESIS



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