Results for the protein: P30556

Results for the Protein: P30556

231519

185

AGTR1

NCBI, UniProt

AGTR1_HUMAN RecName: Full=Type-1 angiotensin II receptor; AltName: Full=AT1AR; AltName: Full=AT1BR; AltName: Full=Angiotensin II type-1 receptor; Short=AT1

Known Diseases associated with this Protein:
RENAL TUBULAR DYSGENESIS
RENAL TUBULAR DYSGENESIS (RTD)

4

7

3

0

8

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Default View: 7tm_1 - pfam00001	Swiss-Prot Protein: P30556 Identical to: NP_000676, NP_033611 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
7tm_1	pfam00001	2e-89	51	302

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_029207	Polymorphism	p.ALA244SER	N/A
Swiss-Prot	VAR_029206	Polymorphism	p.ALA163THR	N/A
Swiss-Prot	VAR_011847	Polymorphism	p.CYS289TRP	N/A
Swiss-Prot	VAR_070375	Polymorphism	p.LEU222VAL	N/A
Swiss-Prot	VAR_011846	Polymorphism	p.LEU48VAL	N/A
Swiss-Prot	VAR_070376	Polymorphism	p.PRO341HIS	N/A
Swiss-Prot	VAR_035086	Disease	p.THR282MET	Renal tubular dysgenesis (RTD)
Swiss-Prot	VAR_011848	Polymorphism	p.THR336PRO	N/A
OMIM	106165.0006	Disease	p.ARG91TER	RENAL TUBULAR DYSGENESIS
OMIM	106165.0004	Disease	p.THR247MET	RENAL TUBULAR DYSGENESIS
OMIM	106165.0005	Disease	p.TRP49TER	RENAL TUBULAR DYSGENESIS

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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