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Results for the Protein: NP_000120
119395709

coagulation factor XIII A chain precursor [Homo sapiens]

Known Diseases associated with this Protein:
  FACTOR XIII, A SUBUNIT, DEFICIENCY OF
  MYOCARDIAL INFARCTION, PROTECTION AGAINST
  VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED
15
4
15
4
0
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Default View:

Transglut_N - pfam00868
Transglut_core - pfam01841
TGc - smart00460
Transglut_C - pfam00927


RefSeq Protein: NP_000120
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Transglut_corepfam018414.8e-14259398
Transglut_Cpfam009271.6e-31519623
Transglut_Cpfam009271.7e-31631728
TGcsmart004603.7e-48307400

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs5988 Polymorphismp.GLU652GLNN/A
dbSNPrs5982 Polymorphismp.PRO565LEUN/A
dbSNPrs5987 Polymorphismp.VAL651ILEN/A
dbSNPrs5985 Polymorphismp.VAL35LEUN/A
OMIM134570.0011 Diseasep.ARG326GLNFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0009 Diseasep.ARG260HISFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0002 Diseasep.ARG681HISFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0003 Diseasep.ARG171TERFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0017 Diseasep.ARG661TERFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0016 Diseasep.ARG703TRPFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0005 Diseasep.ASN60LYSFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0006 Diseasep.GLY501ARGFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0007 Diseasep.GLY562ARGFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0018 Diseasep.MET242THRFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0013 Diseasep.TYR283CYSFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0004 Diseasep.TYR441TERFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0010 Diseasep.VAL34LEUMYOCARDIAL INFARCTION, PROTECTION AGAINST||VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED
OMIM134570.0012 Diseasep.VAL316PHEFACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM134570.0008 Diseasep.VAL414PHEFACTOR XIII, A SUBUNIT, DEFICIENCY OF



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