Results for the protein: Q13705

Results for the Protein: Q13705

97535735

93

ACVR2B

NCBI, UniProt

AVR2B_HUMAN RecName: Full=Activin receptor type-2B; AltName: Full=Activin receptor type IIB; Short=ACTR-IIB; Flags: Precursor

Known Diseases associated with this Protein:
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL (HTX4)

4

2

2

0

4

Tips:

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Swiss-Prot Protein: Q13705

Identical to: NP_001097

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
STKc_MAP4K4_6	cd06636	0.00059	167	450
STKc_PAK6	cd06659	0.00017	172	473
PTKc_FGFR	cd05053	0.00041	178	432
STKc_CDK9	cd07865	4.7e-05	178	480
STKc_myosinIIIB	cd06639	0.00015	179	451
STKc_PAK	cd06614	5.3e-08	180	454
STKc_TNIK	cd06637	3.1e-05	181	450
PTK_HER3	cd05111	2.3e-05	182	456
STKc_CDK10	cd07845	1.5e-05	182	475
PTKc_Tie2	cd05088	0.00014	183	473
STKc_MAP4K5	cd06646	0.00044	183	458
STKc_MAP4K3	cd06645	0.00071	183	449
PTKc_Csk_like	cd05039	1.7e-06	184	434
PTKc_Chk	cd05083	7.1e-05	184	460
PTKc_HER2	cd05109	0.00083	184	458
STKc_PCTAIRE_like	cd07844	0.00077	184	493
STKc_PCTAIRE3	cd07871	0.00043	184	480
PTKc_EphR	cd05033	0.00096	185	437
PTKc_Src_like	cd05034	6.7e-05	185	481
PTKc_FAK	cd05056	9.7e-05	185	465
PTKc_Lck_Blk	cd05067	0.00044	185	481
PTKc_Frk_like	cd05068	3.3e-06	185	460
PTKc_Yes	cd05069	0.00067	185	460
PTKc_Src	cd05071	0.001	185	462
PTKc_Lyn	cd05072	5.5e-05	185	460
PTKc_Hck	cd05073	0.0002	185	460
PTKc_Csk	cd05082	0.0001	185	460
PTKc_Fyn_Yrk	cd05070	0.00023	185	460
PTKc_Itk	cd05112	0.00015	185	458
PTKc_Btk_Bmx	cd05113	3.6e-05	185	458
STKc_MEKK3	cd06651	0.0004	185	453
STKc_CDK12	cd07864	0.00037	185	480
PTKc_Jak_rpt2	cd05038	9.7e-06	187	482
PTKc_EGFR_like	cd05057	0.00073	187	488
PTKc_Tyk2_rpt2	cd05080	2.7e-05	187	483
STKc_SLK_like	cd06611	4.1e-05	187	459
STKc_myosinIII_like	cd06608	3.5e-07	187	424
STKc_Nek6_Nek7	cd08224	0.00049	187	483
STKc_Nek7	cd08229	0.00076	187	438
STKc_MST3_like	cd06609	8.4e-05	188	468
STKc_OSR1_SPAK	cd06610	7.2e-06	188	450
STKc_STK25-YSK1	cd06642	0.00095	188	468
STKc_PAK_II	cd06648	0.00024	188	461
STKc_NAK1_like	cd06917	0.00023	188	432
STKc_CdkB_plant	cd07837	0.00046	188	491
STKc_CDKL1_4	cd07847	5.7e-05	188	480
STKc_MAPKKK	cd06606	2.9e-12	189	445
STKc_MAP4K3_like	cd06613	3.5e-08	189	449
STKc_Cdc7_like	cd06627	2.4e-08	189	386
STKc_MEKK3_like	cd06625	1.3e-05	189	450
STKc_MAPK	cd07834	0.00064	189	500
STKc_Pho85	cd07836	0.00027	189	480
STKc_Nek3	cd08219	0.00028	189	480
PTKc_Abl	cd05052	0.00021	190	461
PTKc_Jak2_Jak3_rpt2	cd05081	1.8e-06	190	482
PKc_MAPKK	cd06605	6.4e-06	190	455
STKc_CDK_like	cd07829	4.8e-05	190	450
STKc_CDK1_like	cd07835	4.9e-05	190	480
STKc_CDK8_like	cd07842	0.00031	190	471
PTKc_Srm_Brk	cd05148	7.1e-06	191	481
STKc_Yank1	cd05578	1.2e-05	191	445
STKc_MST1_2	cd06612	3.5e-06	191	450
PKc_MAPKK_plant_like	cd06623	1.8e-05	191	455
STKc_MEKK4	cd06626	8.1e-07	191	445
STKc_YSK4	cd06631	0.0002	191	450
STKc_CDK7	cd07841	1.6e-05	191	479
STKc_CDKL2_3	cd07846	0.0003	191	480
STKc_Nek	cd08215	1.1e-06	191	445
STKc_Nek2	cd08217	9.8e-05	191	450
STKc_Nek8	cd08220	0.00051	191	450
PKc_STE	cd05122	1.8e-09	192	449
PTKc_Ack_like	cd05040	0.00016	193	480
STKc_CDK9_like	cd07840	0.00085	193	445
PTKc	cd00192	2.9e-07	194	479
PTKc_Tie	cd05047	0.00053	194	462
STKc_MEKK1	cd06630	0.00017	194	451
STKc_PDK1	cd05581	1e-05	195	450
PKc	cd00180	3.5e-38	196	448
STKc_GRK1	cd05608	0.00097	197	502
PTKc_Fes_like	cd05041	0.00034	198	433
STKc_AGC	cd05123	0.00026	198	485
STKc_GRK	cd05577	0.00086	198	491
STKc_MAST_like	cd05579	0.00085	198	429
STKc_MEKK1_plant	cd06632	2.5e-05	198	450
STKc_CMGC	cd05118	6.1e-07	199	471
STKc_CCRK	cd07832	1.6e-07	199	451
STKc_CDKL	cd07833	0.00033	199	450
Activin_recp	pfam01064	7.7e-20	27	117
Pkinase	pfam00069	1.6e-71	190	478
Pkinase_Tyr	pfam07714	1.7e-13	190	478
TyrKc	smart00219	3.5e-10	190	478
STYKc	smart00221	1.3e-15	190	445
S_TKc	smart00220	8.9e-15	200	480
KIND	smart00750	0.00071	271	487

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013281	Disease	p.ARG40HIS	Heterotaxy, visceral, 4, autosomal (HTX4)
Swiss-Prot	VAR_050594	Polymorphism	p.GLU459ASP	N/A
Swiss-Prot	VAR_041396	Polymorphism	p.PRO176ARG	N/A
Swiss-Prot	VAR_013282	Disease	p.VAL494ILE	Heterotaxy, visceral, 4, autosomal (HTX4)
OMIM	602730.0001	Disease	p.ARG40HIS	HETEROTAXY, VISCERAL, 4, AUTOSOMAL
OMIM	602730.0002	Disease	p.VAL494ILE	HETEROTAXY, VISCERAL, 4, AUTOSOMAL

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258