Results for the protein: NP

Results for the Protein: NP_072179

12545406

5921

RASA1

NCBI

ras GTPase-activating protein 1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  BASAL CELL CARCINOMA, SOMATIC
  CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION
  CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION

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RefSeq Protein: NP_072179

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Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SH3	cd00174	5.9e-11	106	161
SH2	cd00173	3.1e-28	173	264
PH_PKB	cd01241	0.00075	298	399
PH_Btk	cd01238	0.00029	299	398
PH	cd00821	1.6e-18	300	398
PH-like	cd00900	1.7e-11	300	398
PH_Sbf1_hMTMR5	cd01235	0.00045	300	399
	cd01245	1.2e-56	300	398
	cd01246	3.8e-08	300	398
PH_GRP1-like	cd01252	4.6e-05	300	404
C2_SynGAP_like	cd04013	3.6e-06	406	543
C2_Ras_p21A1	cd08400	1.7e-93	414	539
C2_fungal_Inn1p-like	cd08681	0.00033	417	535
C2A_RasGAP	cd08383	2.3e-66	418	535
C2	cd00030	7.7e-14	419	515
RasGAP_CLA2_BUD2	cd05137	6.8e-16	494	838
RasGAP_RASA3	cd05134	9.4e-08	516	854
RasGAP_RASAL	cd05135	2.7e-12	537	836
RasGAP	cd04519	3.8e-96	544	858
RasGAP_GAP1_like	cd05128	8.5e-23	544	853
RasGAP_Neurofibromin	cd05130	5.4e-17	544	859
RasGAP_DAB2IP	cd05136	3e-17	544	854
RasGAP_p120GAP	cd05391	4.3e-266	544	858
RasGAP_RASA2	cd05394	1.5e-08	544	854
RasGAP_Neurofibromin	cd05392	4.3e-49	544	859
RasGAP_RAP6	cd05129	8.2e-05	547	851
RasGAP_RASA4	cd05395	1.6e-06	547	868
RasGAP_IQGAP_like	cd05127	7e-07	583	865
RasGAP_GAPA	cd05132	2.8e-10	584	866
SH2	pfam00017	1.4e-30	4	79
SH3_1	pfam00018	1e-08	108	156
SH2	pfam00017	3.2e-32	174	249
PH	pfam00169	6.6e-19	298	400
C2	pfam00168	4.3e-11	419	498
RasGAP	pfam00616	8.1e-61	592	765
SH2	smart00252	9.5e-28	2	85
SH3	smart00326	1.7e-11	103	162
SH2	smart00252	9.1e-26	172	255
PH	smart00233	3.6e-23	298	400
C2	smart00239	6.8e-15	418	512
RasGAP	smart00323	1.5e-157	521	867

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	139150.0001	Disease	p.ARG221LEU	BASAL CELL CARCINOMA, SOMATIC
OMIM	139150.0006	Disease	p.ARG108TER	CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION
OMIM	139150.0005	Disease	p.CYS363TYR	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
OMIM	139150.0003	Disease	p.ILE224VAL	BASAL CELL CARCINOMA, SOMATIC
OMIM	139150.0002	Disease	p.LYS223GLY	BASAL CELL CARCINOMA, SOMATIC

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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