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Results for the Protein: NP_001165828
288915543

pulmonary surfactant-associated protein C isoform 2 proprotein [Homo sapiens]

Known Diseases associated with this Protein:
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
6
2
6
2
0
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Default View:

SF_P - smart00019
SP_C-Propep - pfam08999
BRICHOS - pfam04089




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRICHOSpfam040897.5e-3994191
SP_C-Propeppfam089998.3e-71193
SF_Psmart000192e-1511191

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1124 Polymorphismp.SER180ASNN/A
dbSNPrs4715 Polymorphismp.THR138ASNN/A
OMIM178620.0006 Diseasep.ALA116ASPSURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
OMIM178620.0003 Diseasep.ARG161GLNSURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
OMIM178620.0007 Diseasep.GLU66LYSSURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
OMIM178620.0002 Diseasep.ILE73THRSURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
OMIM178620.0004 Diseasep.LEU182GLNSURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
OMIM178620.0008 Diseasep.LEU188PROSURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2



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