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Results for the Protein: NP_148937
15451786

platelet-derived growth factor subunit B isoform 2 preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
3
1
3
1
0
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Default View:

PDGF_N - pfam04692
PDGF - cd00135
PDGF - smart00141
PDGF - pfam00341


RefSeq Protein: NP_148937
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PDGFcd001351.2e-3980168
PDGF_Npfam046929.7e-33681
PDGFpfam003411.3e-6182165
PDGFsmart001417e-4980167

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17565 Polymorphismp.ILE73VALN/A
OMIM190040.0006 Diseasep.ARG134TERBASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
OMIM190040.0003 Diseasep.GLN130TERBASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
OMIM190040.0004 Diseasep.LEU104PROBASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5



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