Results for the protein: O60890

Results for the Protein: O60890

21759325

4983

OPHN1

NCBI, UniProt

OPHN1_HUMAN RecName: Full=Oligophrenin-1

Known Diseases associated with this Protein:
FACIAL APPEARANCE
MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE

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Swiss-Prot Protein: O60890

Identical to: NP_002538

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BAR_ACAPs	cd07603	8.1e-08	19	225
BAR_OPHN1	cd07633	1.1e-164	19	225
BAR_GAP10-like	cd07634	6.6e-103	19	225
BAR_GRAF2	cd07635	1.1e-84	19	225
BAR_GRAF	cd07636	1.1e-75	19	225
BAR_ACAP3	cd07637	2.7e-07	19	225
BAR_ACAP2	cd07638	0.00056	19	225
BAR	cd07307	6.1e-32	28	224
PH	cd00821	3.2e-09	268	366
PH-like	cd00900	8.2e-07	268	366
BAR-PH_GRAF_family	cd01249	2.3e-77	268	366
PH_AGAP	cd01250	0.00075	268	366
RhoGAP_fSAC7_BAG7	cd04396	1.9e-05	349	564
RhoGAP_Graf	cd04374	1.2e-153	363	559
RhoGAP_nadrin	cd04386	4.1e-11	366	568
RhoGAP_FAM13A1a	cd04393	5.2e-07	368	559
RhoGAP_ARHGAP18	cd04391	3.4e-07	369	585
RhoGAP-ARHGAP11A	cd04394	1.3e-07	369	573
RhoGAP_fBEM3	cd04400	4e-09	369	555
RhoGAP_chimaerin	cd04372	1.1e-25	370	564
RhoGAP_Bcr	cd04387	9.3e-11	370	559
RhoGAP_KIAA1688	cd04389	1.6e-05	370	559
RhoGAP_fRGD1	cd04398	7.7e-20	370	564
RhoGAP_ARHGAP27_15_1	cd04403	2.3e-27	370	559
RhoGAP_GMIP	cd04408	8e-17	370	559
RhoGAP_PARG1	cd04409	3e-21	370	559
RhoGAP_ARAP	cd04385	3e-18	371	560
RhoGAP_myosin_IXB	cd04407	5e-17	371	559
RhoGAP_srGAP	cd04383	3.9e-10	373	558
RhoGAP_ARHGAP21	cd04395	2.7e-13	373	560
RhoGAP_fLRG1	cd04397	0.00012	374	570
RhoGAP-p50rhoGAP	cd04404	3.8e-14	374	564
RhoGAP_GMIP_PARG1	cd04378	2.2e-22	375	559
RhoGAP_CdGAP	cd04384	1.1e-18	376	559
RhoGAP_MgcRacGAP	cd04382	1.4e-13	377	561
RhoGAP_ARHGAP22_24_2	cd04390	9.4e-12	377	564
RhoGAP_p190	cd04373	2.7e-13	378	559
RhoGAP_ARHGAP19	cd04392	2.1e-06	378	573
RhoGAP_SYD1	cd04379	1.6e-09	380	561
RhoGAP_myosin_IXA	cd04406	9.5e-09	380	558
RhoGAP_ARHGAP6	cd04376	2.3e-09	381	570
RhoGAP_ARHGAP20	cd04402	1.4e-05	381	572
RhoGAP_p85	cd04388	3.1e-07	384	579
RhoGAP_myosin_IX	cd04377	1.2e-10	386	559
RhoGAP	cd00159	3.8e-55	387	559
RhoGap_RalBP1	cd04381	9.7e-08	390	551
PH	pfam00169	3.6e-05	266	368
RhoGAP	pfam00620	1.4e-47	388	542
PH	smart00233	7e-08	266	368
RhoGAP	smart00324	2.1e-66	384	560

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013638	Polymorphism	p.ALA45THR	N/A
Swiss-Prot	VAR_033452	Polymorphism	p.MET693ILE	N/A
Swiss-Prot	VAR_013639	Polymorphism	p.THR301MET	N/A
dbSNP	rs41303733	Polymorphism	p.VAL39ILE	N/A
OMIM	300127.0003	Disease	p.GLN62TER	MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE\|\|FACIAL APPEARANCE

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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