Results for the protein: Q8TDX9

Results for the Protein: Q8TDX9

23821932

168507

PKD1L1

NCBI, UniProt

PK1L1_HUMAN RecName: Full=Polycystic kidney disease protein 1-like 1; AltName: Full=PC1-like 1 protein; AltName: Full=Polycystin-1L1

			0 21 0 20 1

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: PKD - smart00089 PKD - cd00146 PLAT_repeat - cd01756 PLAT_LOX - cd01753 PLAT_polycystin - cd01752 PLAT - cd00113 PLAT_RAB6IP1 - cd01757 PKD_channel - pfam08016	Swiss-Prot Protein: Q8TDX9 Identical to: NP_612152 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PLAT	cd00113	1.7e-17	1796	1913
PLAT_polycystin	cd01752	7.5e-70	1796	1915
PLAT_LOX	cd01753	1.5e-05	1796	1917
PLAT_repeat	cd01756	3.2e-23	1796	1915
PLAT_RAB6IP1	cd01757	0.00065	1797	1913
PKD	smart00089	1.6e-10	592	670
PKD_channel	pfam08016	1.7e-08	2328	2749

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs73331750	Polymorphism	p.ALA2053THR	N/A
dbSNP	rs13231277	Polymorphism	p.ALA2685THR	N/A
dbSNP	rs73692834	Polymorphism	p.ARG2458GLN	N/A
dbSNP	rs17131834	Polymorphism	p.ARG2057HIS	N/A
dbSNP	rs10274334	Polymorphism	p.ARG1053PRO	N/A
dbSNP	rs76100363	Polymorphism	p.ARG1922TRP	N/A
dbSNP	rs17131915	Polymorphism	p.ASP812ASN	N/A
dbSNP	rs2290386	Polymorphism	p.GLU2410LYS	N/A
dbSNP	rs59848490	Polymorphism	p.LEU2603PHE	N/A
dbSNP	rs1470859	Polymorphism	p.LYS1272GLU	N/A
dbSNP	rs57109564	Polymorphism	p.PHE988LEU	N/A
dbSNP	rs78833972	Polymorphism	p.PRO1278LEU	N/A
dbSNP	rs66755489	Polymorphism	p.PRO2021LEU	N/A
dbSNP	rs79105203	Polymorphism	p.PRO925LEU	N/A
dbSNP	rs73331766	Polymorphism	p.THR1683ALA	N/A
dbSNP	rs11972142	Polymorphism	p.THR879ALA	N/A
dbSNP	rs113527998	Polymorphism	p.THR1002PRO	N/A
dbSNP	rs79131011	Polymorphism	p.THR2038SER	N/A
dbSNP	rs56100904	Polymorphism	p.VAL894ILE	N/A
Swiss-Prot	VAR_065825	Polymorphism	p.VAL906ILE	N/A
dbSNP	rs2686817	Polymorphism	p.VAL312PHE	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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