Results for the protein: P21731

Results for the Protein: P21731

229463010

6915

TBXA2R

NCBI, UniProt

TA2R_HUMAN RecName: Full=Thromboxane A2 receptor; Short=TXA2-R; AltName: Full=Prostanoid TP receptor

Known Diseases associated with this Protein:
BLEEDING DISORDER, PLATELET-TYPE 13 (BDPLT13)
BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO

4

6

3

1

6

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Default View: 7tm_1 - pfam00001	Swiss-Prot Protein: P21731 Identical to: NP_001051 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_014691	Polymorphism	p.ALA160THR	N/A
Swiss-Prot	VAR_003515	Disease	p.ARG60LEU	Bleeding disorder, platelet-type 13 (BDPLT13)
Swiss-Prot	VAR_014688	Polymorphism	p.CYS68SER	N/A
Swiss-Prot	VAR_014690	Polymorphism	p.GLU94VAL	N/A
Swiss-Prot	VAR_014692	Polymorphism	p.VAL176GLU	N/A
Swiss-Prot	VAR_014689	Polymorphism	p.VAL80GLU	N/A
dbSNP	rs5751	Polymorphism	p.VAL217ILE	N/A
OMIM	188070.0001	Disease	p.ARG60LEU	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
OMIM	188070.0002	Disease	p.ASP304ASN	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
OMIM	188070.0003	Disease	p.VAL241GLY	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO

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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