Results for the protein: Q07889

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PH_SOS	cd01261	2.5e-78	441	548
PH1_FGD1	cd01219	0.001	443	547
PH	cd00821	9e-16	446	544
PH-like	cd00900	1.7e-14	446	544
REM	cd06224	1.2e-45	605	739
RasGEF	cd00155	1.1e-100	776	1015
Histone	pfam00125	1.3e-15	97	169
RhoGEF	pfam00621	1.6e-09	209	389
PH	pfam00169	8.8e-19	444	546
RasGEF_N	pfam00618	2.2e-37	600	717
RasGEF	pfam00617	9.5e-73	777	963
RhoGEF	smart00325	5e-38	204	389
PH	smart00233	4e-16	444	546
RasGEFN	smart00229	2.2e-67	597	741
RasGEF	smart00147	4.8e-104	776	1020

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066053	Polymorphism	p.ALA708THR	N/A
Swiss-Prot	VAR_064506	Disease	p.ARG497GLN	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030434	Disease	p.ARG552GLY	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066057	Polymorphism	p.ARG1131LYS	N/A
Swiss-Prot	VAR_030435	Disease	p.ARG552LYS	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066048	Disease	p.ARG552MET	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030436	Disease	p.ARG552SER	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066049	Disease	p.ARG552THR	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066056	Polymorphism	p.ASN1011SER	N/A
Swiss-Prot	VAR_030426	Disease	p.ASP309TYR	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030431	Disease	p.CYS441TYR	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_064505	Disease	p.GLN477ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030442	Polymorphism	p.GLN977ARG	N/A
Swiss-Prot	VAR_030423	Disease	p.GLU108LYS	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066038	Disease	p.GLU424LYS	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030429	Disease	p.GLU433LYS	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030441	Disease	p.GLU846LYS	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030430	Disease	p.GLY434ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066045	Disease	p.GLY482ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066041	Disease	p.GLY434LYS	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030443	Polymorphism	p.HIS1320ARG	N/A
Swiss-Prot	VAR_030440	Disease	p.ILE733PHE	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066035	Disease	p.ILE252THR	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066042	Disease	p.ILE437THR	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066054	Polymorphism	p.ILE784THR	N/A
Swiss-Prot	VAR_066046	Disease	p.LEU490ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066058	Polymorphism	p.LEU1140ILE	N/A
Swiss-Prot	VAR_030433	Disease	p.LEU550PRO	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066051	Polymorphism	p.LEU569VAL	N/A
Swiss-Prot	VAR_066034	Disease	p.LYS170GLU	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030425	Disease	p.MET269ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_064504	Disease	p.MET269THR	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066037	Disease	p.MET422VAL	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066052	Disease	p.PHE623ILE	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066032	Disease	p.PRO102ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066033	Disease	p.PRO112ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066044	Disease	p.PRO478ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066055	Disease	p.PRO894ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066043	Polymorphism	p.PRO478LEU	N/A
Swiss-Prot	VAR_030437	Polymorphism	p.PRO655LEU	N/A
Swiss-Prot	VAR_030432	Disease	p.SER548ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066059	Polymorphism	p.THR1257ALA	N/A
Swiss-Prot	VAR_066031	Polymorphism	p.THR37ALA	N/A
Swiss-Prot	VAR_066036	Polymorphism	p.THR378ALA	N/A
Swiss-Prot	VAR_030424	Disease	p.THR266LYS	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_066047	Disease	p.THR549LYS	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030428	Disease	p.TRP432ARG	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030439	Disease	p.TRP729LEU	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030427	Disease	p.TYR337CYS	Noonan syndrome 4 (NS4)
Swiss-Prot	VAR_030438	Disease	p.TYR702HIS	Noonan syndrome 4 (NS4)
OMIM	182530.0004	Disease	p.ARG552GLY	NOONAN SYNDROME 4
OMIM	182530.0005	Disease	p.ARG552SER	NOONAN SYNDROME 4
OMIM	182530.0003	Disease	p.MET269ARG	NOONAN SYNDROME 4
OMIM	182530.0002	Disease	p.THR266LYS	NOONAN SYNDROME 4
OMIM	182530.0006	Disease	p.TRP432ARG	NOONAN SYNDROME 4

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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