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Results for the Protein: Q9Y5C1
25008126

ANGL3_HUMAN RecName: Full=Angiopoietin-related protein 3; AltName: Full=Angiopoietin-5; Short=ANG-5; AltName: Full=Angiopoietin-like protein 3; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
3
3
3
1
2
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Default View:

FReD - cd00087
FBG - smart00186
Fibrinogen_C - pfam00147


Swiss-Prot Protein: Q9Y5C1
Identical to: NP_055310
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FReDcd000872.4e-98241454
Fibrinogen_Cpfam001472.2e-52242454
FBGsmart001867.8e-56242454

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_049071Polymorphismp.ASN418TYRN/A
Swiss-ProtVAR_067283Polymorphismp.LEU127PHEN/A
dbSNPrs77871363 Polymorphismp.MET259THRN/A
OMIM604774.0002 Diseasep.GLU129TERHYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
OMIM604774.0007 Diseasep.PHE295LEUHYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
OMIM604774.0001 Diseasep.SER17TERHYPOBETALIPOPROTEINEMIA, FAMILIAL, 2



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