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Results for the Protein: Q8NI22
49036425

MCFD2_HUMAN RecName: Full=Multiple coagulation factor deficiency protein 2; AltName: Full=Neural stem cell-derived neuronal survival protein; Flags: Precursor

Known Diseases associated with this Protein:
  FACTOR V AND FACTOR VIII COMBINED DEFICIENCY 2 (F5F8D2)
  FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
5
0
3
0
2
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EFh - cd00051




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019076Diseasep.ASP129GLUFactor V and factor VIII combined deficiency 2 (F5F8D2)
Swiss-ProtVAR_019077Diseasep.ILE136THRFactor V and factor VIII combined deficiency 2 (F5F8D2)
OMIM607788.0006 Diseasep.ASP129GLUFACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
OMIM607788.0008 Diseasep.ASP81TYRFACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
OMIM607788.0007 Diseasep.ILE136THRFACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2



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