Results for the protein: Q9NTG1

Results for the Protein: Q9NTG1

23396800

10343

PKDREJ

NCBI, UniProt

PKDRE_HUMAN RecName: Full=Polycystic kidney disease and receptor for egg jelly-related protein; AltName: Full=PKD and REJ homolog; Flags: Precursor

			0 13 0 8 5

Tips:

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Default View: REJ - pfam02010 GPS - smart00303 LH2 - smart00308 PLAT_polycystin - cd01752 PLAT - pfam01477 PLAT_LOX - cd01753 PLAT - cd00113 PLAT_repeat - cd01756 PKD_channel - pfam08016 Ion_trans - pfam00520	Swiss-Prot Protein: Q9NTG1 Identical to: NP_006062 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PLAT_polycystin	cd01752	1.8e-65	1230	1346
PLAT_LOX	cd01753	1.2e-05	1230	1346
PLAT_repeat	cd01756	1.3e-16	1230	1349
REJ	pfam02010	1.5e-171	243	712
PLAT	pfam01477	3.8e-28	1230	1343
Ion_trans	pfam00520	0.00035	2004	2171
GPS	smart00303	8.4e-30	1100	1166
LH2	smart00308	6e-05	1230	1336
PKD_channel	pfam08016	8e-224	1748	2178

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036573	Polymorphism	p.ALA669GLY	N/A
dbSNP	rs6008394	Polymorphism	p.ARG528GLN	N/A
dbSNP	rs35276226	Polymorphism	p.ASN1411ASP	N/A
dbSNP	rs6008384	Polymorphism	p.ASN1091SER	N/A
dbSNP	rs36125344	Polymorphism	p.ILE1147MET	N/A
Swiss-Prot	VAR_050550	Polymorphism	p.ILE1528MET	N/A
dbSNP	rs6519993	Polymorphism	p.LEU914PRO	N/A
Swiss-Prot	VAR_036574	Polymorphism	p.THR1875ILE	N/A
Swiss-Prot	VAR_050546	Polymorphism	p.THR992PRO	N/A
dbSNP	rs7291444	Polymorphism	p.THR992SER	N/A
Swiss-Prot	VAR_059550	Polymorphism	p.VAL26ALA	N/A
dbSNP	rs34798212	Polymorphism	p.VAL993ALA	N/A
dbSNP	rs9626829	Polymorphism	p.VAL1729ILE	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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