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Results for the Protein: P42892
1706563

ECE1_HUMAN RecName: Full=Endothelin-converting enzyme 1; Short=ECE-1

Known Diseases associated with this Protein:
  HIRSCHSPRUNG DISEASE CARDIAC DEFECTS AND AUTONOMIC DYSFUNCTION (HSCRCDAD)
  HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION
2
2
1
1
2
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Default View:

PepO - COG3590
Peptidase_M13_N - pfam05649
Peptidase_M13 - pfam01431


Swiss-Prot Protein: P42892
Identical to: NP_001388
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PepOCOG35901e-13893770
Peptidase_M13pfam014317.5e-81566769
Peptidase_M13_Npfam056494.3e-163122507

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026747Diseasep.ARG754CYSHirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD)
dbSNPrs1076669 Polymorphismp.THR341ILEN/A
Swiss-ProtVAR_054007Polymorphismp.TRP630ARGN/A
OMIM600423.0001 Diseasep.ARG742CYSHIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION



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