Results for the protein: NP

Results for the Protein: NP_001258627

411147367

22

ABCB7

NCBI

ATP-binding cassette sub-family B member 7, mitochondrial isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA

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3

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Tips:

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RefSeq Protein: NP_001258627

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG1123	COG1123	3.2e-12	199	689
Uup	COG0488	0.00081	266	674
ABCC_SUR2	cd03288	1.3e-24	371	683
ABCC_CFTR1	cd03291	1.3e-08	407	709
ModF	COG1119	1.6e-13	421	664
TagH	COG1134	2.8e-06	425	686
ABC_RNaseL_inhibitor	cd03222	3.8e-05	438	679
ABCC_TAP	cd03248	2.3e-50	438	658
Ttg2A	COG1127	2.1e-16	438	698
ABC_NatA_sodium_expo	cd03266	4.9e-12	439	662
PhnK	COG1101	1.2e-07	439	696
MglA	COG1129	5.7e-05	439	721
YhbG	COG1137	2.8e-07	439	674
ABCC_NFT1	cd03369	1.9e-34	441	664
PstB	COG1117	6.6e-12	441	685
ZnuC	COG1121	1.2e-12	442	691
CcmA	COG1131	1.3e-31	442	720
ABCG_EPDR	cd03213	6.7e-16	443	662
ABCG_PDR_domain2	cd03232	8.3e-06	443	662
ABCG_PDR_domain1	cd03233	5.6e-08	443	662
ABCG_White	cd03234	9.2e-10	443	662
sufC	COG0396	2.7e-07	443	673
LivF	COG0410	1.5e-13	443	674
LivG	COG0411	4.1e-11	443	671
TauB	COG1116	3.6e-14	443	690
CbiO	COG1122	4.1e-39	443	676
DppF	COG1124	1.1e-22	443	690
ABC_Carb_Monos_II	cd03215	1.6e-09	444	658
ABCC_MRP_domain2	cd03244	8e-65	444	664
ABCC_bacteriocin_exp	cd03245	4.8e-60	444	662
ABCC_Glucan_exporter	cd03254	9.4e-108	444	672
ABCC_CFTR2	cd03289	4e-24	444	723
ABC_CysA_sulfate_imp	cd03296	7e-20	444	682
FepC	COG1120	1.2e-15	444	706
GlnQ	COG1126	3.2e-18	444	675
CysA	COG1118	9e-08	444	723
ABC_RNaseL_inhibitor	cd03236	0.00025	445	711
ABC_NikE_OppD_transp	cd03257	3.6e-30	445	662
ABC_MetN_methionine_	cd03258	1.1e-18	445	672
DppD	COG0444	1.3e-12	445	726
OpuBA	COG1125	4.7e-11	445	718
AbcC	COG1135	1.3e-13	445	723
SalX	COG1136	5.2e-23	445	664
ABC_Carb_Monos_I	cd03216	2.7e-17	446	661
ABC_YhbG	cd03218	3.9e-06	446	672
ABC_KpsT_Wzt	cd03220	1.3e-10	446	662
ABCD_peroxisomal_ALD	cd03223	4.7e-10	446	658
ABC_TM1139_LivF_bran	cd03224	1e-15	446	670
ABCF_EF-3	cd03221	2.3e-07	446	657
ABCC_MRP_Like	cd03228	3.2e-114	446	657
ABC_Class3	cd03229	5.7e-44	446	657
ABC_DR_subfamily_A	cd03230	2.1e-31	446	658
ABCC_Protease_Secret	cd03246	5e-53	446	658
ABCC_cytochrome_bd	cd03247	1.3e-74	446	662
ABCC_MRP_domain1	cd03250	2.4e-19	446	657
ABCC_MsbA	cd03251	8.3e-108	446	679
ABCC_Hemolysin	cd03252	5.8e-89	446	682
ABCC_ATM1_transporte	cd03253	1.7e-164	446	682
ABC_MJ0796_LolCDE_Ft	cd03255	1.8e-18	446	658
ABC_PhnC_transporter	cd03256	1.5e-15	446	675
ABC_Carb_Solutes_lik	cd03259	3.6e-28	446	662
ABC_PstB_phosphate_t	cd03260	2.3e-26	446	667
ABC_MTABC3_MDL1_MDL2	cd03249	1.1e-98	446	682
ABC_HisP_GlnQ	cd03262	5.7e-19	446	658
ABC_subfamily_A	cd03263	2.1e-12	446	668
ABC_drug_resistance_	cd03264	9.6e-12	446	662
ABC_DrrA	cd03265	4.5e-10	446	668
ABC_NatA_like	cd03267	2.9e-05	446	662
ABC_Org_Solvent_Resi	cd03261	1.1e-21	446	678
ABC_BcrA_bacitracin_	cd03268	1.2e-10	446	662
ABC_putative_ATPase	cd03269	8.1e-09	446	662
ABC_FtsE_transporter	cd03292	9.9e-17	446	658
ABC_NrtD_SsuB_transp	cd03293	8.2e-19	446	666
ABC_OpuCA_Osmoprotec	cd03295	1.8e-15	446	687
ABC_ThiQ_thiamine_tr	cd03298	2e-12	446	662
ABC_PotA_N	cd03300	5.3e-14	446	675
ABC_Pro_Gly_Betaine	cd03294	1.4e-13	446	678
ABC_MalK_N	cd03301	3.4e-12	446	662
ABCC_SUR1_N	cd03290	1e-13	446	657
ABC_ATPase	cd00267	1.5e-62	447	657
ABC_Iron-Siderophore	cd03214	1.9e-22	447	662
ABC_cobalt_CbiO_doma	cd03225	9.4e-38	447	657
ABC_cobalt_CbiO_doma	cd03226	8.3e-15	447	659
ABC_Metallic_Cations	cd03235	4.2e-13	447	661
ABC_FeS_Assembly	cd03217	1.9e-07	450	667
ABC_ModC_like	cd03299	2.5e-15	451	674
ABC_RNaseL_inhibitor	cd03237	1.2e-05	453	701
ABC_UvrA	cd03238	1.5e-05	454	662
ABC_Mj1267_LivG_bran	cd03219	2.2e-14	456	673
ABC_CcmA_heme_export	cd03231	4.8e-07	457	659
ABC_ModC_molybdenum_	cd03297	1.3e-13	459	662
SunT	COG2274	2.6e-66	1	683
COG4178	COG4178	0.00039	73	671
PvdE	COG4615	4.1e-08	94	672
CydC	COG4987	3.1e-24	95	682
CydD	COG4988	7.1e-33	113	688
ABC_membrane	pfam00664	3.7e-29	114	398
ATM1	COG5265	3.2e-273	183	681
ArpD	COG4618	3e-15	214	687
COG4172	COG4172	2.7e-07	306	687
COG4586	COG4586	2.2e-05	429	723
SapF	COG4167	3.5e-09	433	698
PhnK	COG4107	1.2e-07	439	688
COG4181	COG4181	4.1e-12	440	662
PotA	COG3842	1.1e-10	441	722
ProV	COG4175	6.2e-07	442	722
HisP	COG4598	8.2e-17	442	685
AppF	COG4608	7.1e-16	442	720
PhnL	COG4778	2.3e-08	442	660
COG3638	COG3638	2.1e-14	443	684
MalK	COG3839	3.9e-11	443	718
COG4619	COG4619	4.6e-12	443	669
COG4136	COG4136	2.9e-06	444	661
COG4152	COG4152	0.00099	444	725
ArtP	COG4161	1.8e-18	444	682
TauB	COG4525	1.4e-09	444	689
FtsE	COG2884	8.2e-16	445	666
ThiQ	COG3840	3.9e-12	445	681
NatA	COG4555	1.1e-14	445	687
COG4559	COG4559	3e-08	445	698
CcmA	COG4133	1.7e-07	446	661
CeuD	COG4604	2.7e-05	446	695
ModC	COG4148	2.6e-09	450	720
BtuD	COG4138	5.4e-07	451	698
ABC_tran	pfam00005	5.2e-38	486	611
AAA	smart00382	2.3e-32	471	657

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	300135.0002	Disease	p.GLU406LYS	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0001	Disease	p.ILE373MET	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0003	Disease	p.VAL384LEU	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA

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