Results for the protein: P00488

Results for the Protein: P00488

119720

2162

F13A1

NCBI, UniProt

F13A_HUMAN RecName: Full=Coagulation factor XIII A chain; Short=Coagulation factor XIIIa; AltName: Full=Protein-glutamine gamma-glutamyltransferase A chain; AltName: Full=Transglutaminase A chain; Flags: Precursor

Known Diseases associated with this Protein:
FACTOR XIII SUBUNIT A DEFICIENCY (FA13AD)

1

10

0

0

11

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Default View: TGc - smart00460	Swiss-Prot Protein: P00488 Default View:

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-Prot	VAR_007474	Disease	p.ARG682HIS	Factor XIII subunit A deficiency (FA13AD)
Swiss-Prot	VAR_007473	Polymorphism	p.GLN652GLU	N/A
Swiss-Prot	VAR_013929	Polymorphism	p.LEU589GLN	N/A
Swiss-Prot	VAR_057350	Polymorphism	p.MET351LYS	N/A
Swiss-Prot	VAR_007471	Polymorphism	p.PRO565LEU	N/A
Swiss-Prot	VAR_013928	Polymorphism	p.THR551ILE	N/A
Swiss-Prot	VAR_060545	Polymorphism	p.THR650ILE	N/A
Swiss-Prot	VAR_020911	Polymorphism	p.TYR205PHE	N/A
Swiss-Prot	VAR_020910	Polymorphism	p.VAL40ILE	N/A
Swiss-Prot	VAR_007472	Polymorphism	p.VAL651ILE	N/A
Swiss-Prot	VAR_013927	Polymorphism	p.VAL35LEU	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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