Results for the protein: Q9P212

Results for the Protein: Q9P212

118595723

51196

PLCE1

NCBI, UniProt

PLCE1_HUMAN RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1; AltName: Full=Pancreas-enriched phospholipase C; AltName: Full=Phosphoinositide phospholipase C-epsilon-1; AltName: Full=Phospholipase C-epsilon-1; Short=PLC-epsilon-1

Known Diseases associated with this Protein:
NEPHROTIC SYNDROME 3 (NPHS3)
NEPHROTIC SYNDROME, TYPE 3

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6

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Swiss-Prot Protein: Q9P212

Identical to: NP_057425

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PI-PLCc	cd00137	2.4e-32	1391	1833
PI-PLCc_gamma	cd08592	3.8e-12	1391	2120
PI-PLCc_eukaryota	cd08558	1.8e-178	1391	1833
PI-PLCc_plant	cd08599	4.6e-27	1391	1833
PI-PLC1c_yeast	cd08598	5.9e-76	1391	1833
PI-PLCc_beta	cd08591	1.5e-75	1391	1833
PI-PLCc_epsilon	cd08596		1391	1833
PI-PLCc_zeta	cd08595	7.7e-55	1391	1833
PI-PLCc_beta1	cd08623	8e-55	1391	1833
PI-PLCc_beta3	cd08625	3.5e-53	1391	1833
PI-PLCc_beta4	cd08626	1.6e-57	1391	1833
PI-PLCc_delta1	cd08629	1.8e-52	1391	1833
PI-PLCc_delta3	cd08630	8.6e-55	1391	1833
PI-PLCc_delta4	cd08631	2e-54	1391	1833
PI-PLCc_gamma2	cd08628	6.3e-09	1391	1833
PI-PLCc_eta1	cd08632	4.9e-59	1391	1833
PI-PLCc_eta2	cd08633	9.5e-48	1391	1833
PI-PLCc_beta2	cd08624	5.8e-57	1391	1833
PI-PLCc_gamma1	cd08627	2e-06	1392	2160
PI-PLCc_delta	cd08593	1.2e-82	1397	1833
PI-PLCc_eta	cd08594	1.1e-61	1397	1833
PI-PLCc_PRIP_metazoa	cd08597	2.7e-60	1397	1833
PI-PLCc_GDPD_SF	cd08555	2.7e-13	1404	1653
C2_PLC_like	cd00275	6.6e-41	1868	1988
C2	cd00030	1.5e-05	1871	1971
PLC_epsilon_RA	cd01780	6.5e-75	2137	2236
RA	cd01768	2e-25	2138	2236
RasGEF	pfam00617	3.1e-18	528	766
PI-PLC-X	pfam00388	2.7e-88	1394	1541
PI-PLC-Y	pfam00387	6.9e-42	1734	1846
C2	pfam00168	4.3e-09	1871	1953
RA	pfam00788	2.2e-31	2138	2238
RasGEF	smart00147	5.5e-08	528	831
PLCXc	smart00148	1.5e-75	1392	1530
PLCYc	smart00149	1.1e-45	1733	1845
C2	smart00239	2.4e-12	1870	1968
RA	smart00314	3.5e-05	2135	2237

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17417407	Polymorphism	p.ARG548LEU	N/A
dbSNP	rs2274224	Polymorphism	p.ARG1575PRO	N/A
dbSNP	rs2274223	Polymorphism	p.HIS1927ARG	N/A
dbSNP	rs58539480	Polymorphism	p.PRO1890LEU	N/A
Swiss-Prot	VAR_029883	Disease	p.SER1484LEU	Nephrotic syndrome 3 (NPHS3)
dbSNP	rs17508082	Polymorphism	p.SER469THR	N/A
dbSNP	rs3765524	Polymorphism	p.THR1777ILE	N/A
OMIM	608414.0003	Disease	p.ARG1116TER	NEPHROTIC SYNDROME, TYPE 3
OMIM	608414.0010	Disease	p.ARG1246TER	NEPHROTIC SYNDROME, TYPE 3
OMIM	608414.0008	Disease	p.ARG2150TER	NEPHROTIC SYNDROME, TYPE 3
OMIM	608414.0009	Disease	p.ARG321TER	NEPHROTIC SYNDROME, TYPE 3
OMIM	608414.0002	Disease	p.ARG493TER	NEPHROTIC SYNDROME, TYPE 3
OMIM	608414.0005	Disease	p.GLN1616TER	NEPHROTIC SYNDROME, TYPE 3
OMIM	608414.0006	Disease	p.GLN1854TER	NEPHROTIC SYNDROME, TYPE 3
OMIM	608414.0007	Disease	p.SER1484LEU	NEPHROTIC SYNDROME, TYPE 3

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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