Results for the protein: Q86WI1

Results for the Protein: Q86WI1

269849629

93035

PKHD1L1

NCBI, UniProt

PKHL1_HUMAN RecName: Full=Fibrocystin-L; AltName: Full=Polycystic kidney and hepatic disease 1-like protein 1; Short=PKHD1-like protein 1; Flags: Precursor

			0 20 0 15 5

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: IPT - smart00429 IPT_PCSR - cd00603 TIG - pfam01833 IPT - cd00102 IPT_plexin_repeat2 - cd01179 IPT_plexin_repeat1 - cd01180 PA14 - pfam07691 PA14 - smart00758 G8 - pfam10162	Swiss-Prot Protein: Q86WI1 Identical to: NP_803875 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IPT_PCSR	cd00603	6.2e-24	31	142
IPT	cd00102	1.3e-17	270	363
IPT_PCSR	cd00603	1.3e-21	270	363
IPT_plexin_repeat2	cd01179	2.3e-07	270	363
IPT_plexin_repeat1	cd01180	8.3e-05	271	363
IPT	cd00102	2e-13	1067	1153
IPT_PCSR	cd00603	4.8e-16	1067	1153
IPT_plexin_repeat1	cd01180	6.8e-06	1067	1153
IPT	cd00102	3.8e-19	1155	1236
IPT_PCSR	cd00603	3.9e-18	1155	1236
IPT_plexin_repeat2	cd01179	4.7e-06	1155	1236
IPT_plexin_repeat1	cd01180	4.6e-06	1156	1236
IPT	cd00102	4.1e-14	1240	1330
IPT_PCSR	cd00603	1.1e-18	1240	1330
IPT_plexin_repeat1	cd01180	5.1e-05	1240	1330
IPT_PCSR	cd00603	0.00051	1331	1418
IPT	cd00102	9.4e-05	1566	1655
IPT	cd00102	4.7e-19	1659	1745
IPT_PCSR	cd00603	9.5e-22	1659	1745
IPT_plexin_repeat2	cd01179	6.2e-05	1659	1745
IPT_plexin_repeat1	cd01180	1.9e-05	1659	1745
IPT	cd00102	0.00029	1749	1830
IPT	cd00102	7.5e-21	1831	1912
IPT_PCSR	cd00603	1.1e-21	1831	1912
IPT_plexin_repeat2	cd01179	2e-07	1831	1912
IPT_plexin_repeat1	cd01180	1.1e-05	1831	1912
IPT	cd00102	1.4e-10	1916	1999
IPT_PCSR	cd00603	1.2e-12	1916	1999
IPT	cd00102	2.3e-12	2000	2087
IPT_PCSR	cd00603	1.9e-15	2000	2087
IPT	cd00102	4.9e-21	2091	2178
IPT_PCSR	cd00603	3.5e-23	2091	2178
IPT_plexin_repeat2	cd01179	2.3e-07	2091	2178
IPT_plexin_repeat1	cd01180	3.1e-07	2091	2178
TIG	pfam01833	2.9e-07	31	131
TIG	pfam01833	7e-21	146	255
TIG	pfam01833	5e-09	270	361
TIG	pfam01833	1.2e-15	1067	1151
TIG	pfam01833	7.9e-18	1155	1234
TIG	pfam01833	3.2e-12	1240	1322
TIG	pfam01833	1.3e-09	1330	1418
TIG	pfam01833	2.6e-12	1566	1649
TIG	pfam01833	4.9e-14	1659	1743
TIG	pfam01833	2.6e-12	1749	1828
TIG	pfam01833	2.1e-20	1831	1910
TIG	pfam01833	5.4e-14	1916	1997
TIG	pfam01833	9.1e-17	1998	2085
TIG	pfam01833	1.1e-19	2091	2176
IPT	smart00429	0.00045	30	139
IPT	smart00429	2.5e-06	271	362
PA14	pfam07691	5.4e-05	338	492
PA14	smart00758	9.2e-05	340	491
IPT	smart00429	4.4e-05	1066	1152
IPT	smart00429	0.00053	1154	1235
IPT	smart00429	0.00054	1658	1744
IPT	smart00429	1.1e-05	1825	1911
IPT	smart00429	3e-08	2090	2177
G8	pfam10162	4.2e-50	2184	2304
G8	pfam10162	4.9e-44	3036	3174

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35375999	Polymorphism	p.ALA957GLU	N/A
dbSNP	rs77310972	Polymorphism	p.ARG2572GLN	N/A
dbSNP	rs1673408	Polymorphism	p.ARG1514SER	N/A
dbSNP	rs73307391	Polymorphism	p.ASN1005SER	N/A
dbSNP	rs9774677	Polymorphism	p.ASP3607GLU	N/A
dbSNP	rs74937681	Polymorphism	p.ASP797GLU	N/A
dbSNP	rs4735133	Polymorphism	p.HIS923ARG	N/A
Swiss-Prot	VAR_038769	Polymorphism	p.HIS3050GLN	N/A
dbSNP	rs16879659	Polymorphism	p.ILE3411VAL	N/A
Swiss-Prot	VAR_038773	Polymorphism	p.LEU3862PHE	N/A
Swiss-Prot	VAR_038765	Polymorphism	p.THR1192ALA	N/A
Swiss-Prot	VAR_038767	Polymorphism	p.THR1539ARG	N/A
dbSNP	rs16879428	Polymorphism	p.TRP373CYS	N/A
dbSNP	rs72687015	Polymorphism	p.TYR1638CYS	N/A
dbSNP	rs964307	Polymorphism	p.TYR440HIS	N/A
dbSNP	rs16879534	Polymorphism	p.TYR943HIS	N/A
dbSNP	rs76072933	Polymorphism	p.VAL3182ALA	N/A
Swiss-Prot	VAR_038770	Polymorphism	p.VAL3080ILE	N/A
dbSNP	rs1783174	Polymorphism	p.VAL4220ILE	N/A
dbSNP	rs1673407	Polymorphism	p.VAL1965LEU	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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