Results for the protein: NP

Results for the Protein: NP_001258626

411147365

22

ABCB7

NCBI

ATP-binding cassette sub-family B member 7, mitochondrial isoform 3 [Homo sapiens]

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

3

0

3

0

0

Tips:

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RefSeq Protein: NP_001258626

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG1123	COG1123	3.2e-12	185	675
Uup	COG0488	0.00081	252	660
ABCC_SUR2	cd03288	1.3e-24	357	669
ABCC_CFTR1	cd03291	1.3e-08	393	695
ModF	COG1119	1.6e-13	407	650
TagH	COG1134	2.8e-06	411	672
ABC_RNaseL_inhibitor	cd03222	3.8e-05	424	665
ABCC_TAP	cd03248	2.3e-50	424	644
Ttg2A	COG1127	2.1e-16	424	684
ABC_NatA_sodium_expo	cd03266	4.9e-12	425	648
PhnK	COG1101	1.2e-07	425	682
MglA	COG1129	5.7e-05	425	707
YhbG	COG1137	2.8e-07	425	660
ABCC_NFT1	cd03369	1.9e-34	427	650
PstB	COG1117	6.6e-12	427	671
ZnuC	COG1121	1.2e-12	428	677
CcmA	COG1131	1.3e-31	428	706
ABCG_EPDR	cd03213	6.7e-16	429	648
ABCG_PDR_domain2	cd03232	8.3e-06	429	648
ABCG_PDR_domain1	cd03233	5.6e-08	429	648
ABCG_White	cd03234	9.2e-10	429	648
sufC	COG0396	2.7e-07	429	659
LivF	COG0410	1.5e-13	429	660
LivG	COG0411	4.1e-11	429	657
TauB	COG1116	3.6e-14	429	676
CbiO	COG1122	4.1e-39	429	662
DppF	COG1124	1.1e-22	429	676
ABC_Carb_Monos_II	cd03215	1.6e-09	430	644
ABCC_MRP_domain2	cd03244	8e-65	430	650
ABCC_bacteriocin_exp	cd03245	4.8e-60	430	648
ABCC_Glucan_exporter	cd03254	9.4e-108	430	658
ABCC_CFTR2	cd03289	4e-24	430	709
ABC_CysA_sulfate_imp	cd03296	7e-20	430	668
FepC	COG1120	1.2e-15	430	692
CysA	COG1118	9e-08	430	709
GlnQ	COG1126	3.2e-18	430	661
ABC_RNaseL_inhibitor	cd03236	0.00025	431	697
ABC_MetN_methionine_	cd03258	1.1e-18	431	658
ABC_NikE_OppD_transp	cd03257	3.6e-30	431	648
DppD	COG0444	1.3e-12	431	712
OpuBA	COG1125	4.7e-11	431	704
AbcC	COG1135	1.3e-13	431	709
SalX	COG1136	5.2e-23	431	650
ABC_Carb_Monos_I	cd03216	2.7e-17	432	647
ABC_YhbG	cd03218	3.9e-06	432	658
ABC_KpsT_Wzt	cd03220	1.3e-10	432	648
ABCF_EF-3	cd03221	2.3e-07	432	643
ABCD_peroxisomal_ALD	cd03223	4.7e-10	432	644
ABC_TM1139_LivF_bran	cd03224	1e-15	432	656
ABCC_MRP_Like	cd03228	3.2e-114	432	643
ABC_Class3	cd03229	5.7e-44	432	643
ABC_DR_subfamily_A	cd03230	2.1e-31	432	644
ABCC_Protease_Secret	cd03246	5e-53	432	644
ABCC_cytochrome_bd	cd03247	1.3e-74	432	648
ABC_MTABC3_MDL1_MDL2	cd03249	1.1e-98	432	668
ABCC_MsbA	cd03251	8.3e-108	432	665
ABCC_MRP_domain1	cd03250	2.4e-19	432	643
ABCC_Hemolysin	cd03252	5.8e-89	432	668
ABCC_ATM1_transporte	cd03253	1.7e-164	432	668
ABC_MJ0796_LolCDE_Ft	cd03255	1.8e-18	432	644
ABC_PhnC_transporter	cd03256	1.5e-15	432	661
ABC_Carb_Solutes_lik	cd03259	3.6e-28	432	648
ABC_Org_Solvent_Resi	cd03261	1.1e-21	432	664
ABC_subfamily_A	cd03263	2.1e-12	432	654
ABC_drug_resistance_	cd03264	9.6e-12	432	648
ABC_DrrA	cd03265	4.5e-10	432	654
ABC_HisP_GlnQ	cd03262	5.7e-19	432	644
ABC_NatA_like	cd03267	2.9e-05	432	648
ABC_BcrA_bacitracin_	cd03268	1.2e-10	432	648
ABC_putative_ATPase	cd03269	8.1e-09	432	648
ABCC_SUR1_N	cd03290	1e-13	432	643
ABC_FtsE_transporter	cd03292	9.9e-17	432	644
ABC_NrtD_SsuB_transp	cd03293	8.2e-19	432	652
ABC_Pro_Gly_Betaine	cd03294	1.4e-13	432	664
ABC_OpuCA_Osmoprotec	cd03295	1.8e-15	432	673
ABC_ThiQ_thiamine_tr	cd03298	2e-12	432	648
ABC_PotA_N	cd03300	5.3e-14	432	661
ABC_MalK_N	cd03301	3.4e-12	432	648
ABC_PstB_phosphate_t	cd03260	2.3e-26	432	653
ABC_ATPase	cd00267	1.5e-62	433	643
ABC_Iron-Siderophore	cd03214	1.9e-22	433	648
ABC_cobalt_CbiO_doma	cd03225	9.4e-38	433	643
ABC_cobalt_CbiO_doma	cd03226	8.3e-15	433	645
ABC_Metallic_Cations	cd03235	4.2e-13	433	647
ABC_FeS_Assembly	cd03217	1.9e-07	436	653
ABC_ModC_like	cd03299	2.5e-15	437	660
ABC_RNaseL_inhibitor	cd03237	1.2e-05	439	687
ABC_UvrA	cd03238	1.5e-05	440	648
ABC_Mj1267_LivG_bran	cd03219	2.2e-14	442	659
ABC_CcmA_heme_export	cd03231	4.8e-07	443	645
ABC_ModC_molybdenum_	cd03297	1.3e-13	445	648
SunT	COG2274	6.2e-68	1	669
CydD	COG4988	4.2e-32	97	674
COG4178	COG4178	0.00046	99	657
PvdE	COG4615	4.6e-08	109	658
ABC_membrane	pfam00664	3.2e-22	111	384
CydC	COG4987	5.1e-23	113	668
ATM1	COG5265	3.2e-273	169	667
ArpD	COG4618	3e-15	200	673
COG4172	COG4172	2.7e-07	292	673
COG4586	COG4586	2.2e-05	415	709
SapF	COG4167	3.5e-09	419	684
PhnK	COG4107	1.2e-07	425	674
COG4181	COG4181	4.1e-12	426	648
PotA	COG3842	1.1e-10	427	708
ProV	COG4175	6.2e-07	428	708
HisP	COG4598	8.2e-17	428	671
AppF	COG4608	7.1e-16	428	706
PhnL	COG4778	2.3e-08	428	646
COG3638	COG3638	2.1e-14	429	670
MalK	COG3839	3.9e-11	429	704
COG4619	COG4619	4.6e-12	429	655
COG4136	COG4136	2.9e-06	430	647
COG4152	COG4152	0.00099	430	711
ArtP	COG4161	1.8e-18	430	668
TauB	COG4525	1.4e-09	430	675
FtsE	COG2884	8.2e-16	431	652
ThiQ	COG3840	3.9e-12	431	667
COG4559	COG4559	3e-08	431	684
NatA	COG4555	1.1e-14	431	673
CcmA	COG4133	1.7e-07	432	647
CeuD	COG4604	2.7e-05	432	681
ModC	COG4148	2.6e-09	436	706
BtuD	COG4138	5.4e-07	437	684
ABC_tran	pfam00005	5.2e-38	472	597
AAA	smart00382	2.3e-32	457	643

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	300135.0002	Disease	p.GLU392LYS	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0001	Disease	p.ILE359MET	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0003	Disease	p.VAL370LEU	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