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Results for the Protein: P15428
129889

PGDH_HUMAN RecName: Full=15-hydroxyprostaglandin dehydrogenase [NAD(+)]; Short=15-PGDH; AltName: Full=Prostaglandin dehydrogenase 1

Known Diseases associated with this Protein:
  CRANIOOSTEOARTHROPATHY
  CRANIOOSTEOARTHROPATHY (COA)
  DIGITAL CLUBBING, ISOLATED CONGENITAL
  ISOLATED CONGENITAL NAIL CLUBBING (ICNC)
4
1
2
0
3
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Default View:

PKS_KR - smart00822
KR - pfam08659


Swiss-Prot Protein: P15428
Identical to: NP_000851
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
KRpfam086590.000287180

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046209Diseasep.ALA140PROCranioosteoarthropathy (COA)
Swiss-ProtVAR_060792Diseasep.SER193PROIsolated congenital nail clubbing (ICNC)
Swiss-ProtVAR_006972Polymorphismp.TYR217CYSN/A
OMIM601688.0001 Diseasep.ALA140PROCRANIOOSTEOARTHROPATHY
OMIM601688.0004 Diseasep.SER193PRODIGITAL CLUBBING, ISOLATED CONGENITAL



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