Results for the protein: P21980

Results for the Protein: P21980

20141877

7052

TGM2

NCBI, UniProt

TGM2_HUMAN RecName: Full=Protein-glutamine gamma-glutamyltransferase 2; AltName: Full=Tissue transglutaminase; AltName: Full=Transglutaminase C; Short=TG(C); Short=TGC; Short=TGase C; AltName: Full=Transglutaminase H; Short=TGase H; AltName: Full=Transglutaminase-2; Short=TGase-2

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Default View: Transglut_N - pfam00868 Transglut_core - pfam01841 TGc - smart00460 Transglut_C - pfam00927	Swiss-Prot Protein: P21980 Identical to: NP_004604 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Transglut_core	pfam01841	9.4e-14	239	359
Transglut_C	pfam00927	1.4e-32	473	573
Transglut_C	pfam00927	5.8e-32	587	686
TGc	smart00460	7.8e-39	269	361

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_055357	Polymorphism	p.ARG214HIS	N/A
Swiss-Prot	VAR_052553	Polymorphism	p.ARG76HIS	N/A
Swiss-Prot	VAR_055359	Polymorphism	p.ARG436TRP	N/A
Swiss-Prot	VAR_055358	Polymorphism	p.GLN324ARG	N/A
Swiss-Prot	VAR_036554	Polymorphism	p.GLY660VAL	N/A
Swiss-Prot	VAR_037999	Polymorphism	p.ILE331ASN	N/A
Swiss-Prot	VAR_037998	Polymorphism	p.MET330ARG	N/A
Swiss-Prot	VAR_052554	Polymorphism	p.PRO536SER	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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