Results for the protein: Q9H7P9

Results for the Protein: Q9H7P9

296439273

64857

PLEKHG2

NCBI, UniProt

PKHG2_HUMAN RecName: Full=Pleckstrin homology domain-containing family G member 2; Short=PH domain-containing family G member 2

			0 8 0 7 1

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Default View: RhoGEF - cd00160 RhoGEF - smart00325 RhoGEF - pfam00621 PH - pfam00169 PH - smart00233 - cd01232 - cd01222 PH-like - cd00900 PH - cd00821	Swiss-Prot Protein: Q9H7P9 Identical to: NP_073746 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
	cd01232	2.5e-05	310	412
	cd01222	8.5e-75	311	412
PH	cd00821	3.7e-11	316	409
PH-like	cd00900	3.9e-10	316	409
RhoGEF	pfam00621	2e-58	107	282
PH	pfam00169	0.00026	308	411
RhoGEF	smart00325	2.1e-50	106	282
PH	smart00233	4.8e-07	308	411

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_035328	Polymorphism	p.ALA1302THR	N/A
dbSNP	rs73033371	Polymorphism	p.ALA255VAL	N/A
dbSNP	rs114725664	Polymorphism	p.ARG47GLN	N/A
dbSNP	rs10407035	Polymorphism	p.ARG647HIS	N/A
dbSNP	rs31726	Polymorphism	p.ARG992LYS	N/A
dbSNP	rs16973407	Polymorphism	p.ILE622VAL	N/A
dbSNP	rs31728	Polymorphism	p.PRO1329ALA	N/A
dbSNP	rs35904695	Polymorphism	p.THR540ILE	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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