Results for the protein: NP

Results for the Protein: NP_004290

42490749

22

ABCB7

NCBI

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

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

3

2

3

2

0

Tips:

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RefSeq Protein: NP_004290

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG1123	COG1123	3.2e-12	226	716
Uup	COG0488	0.00081	293	701
ABCC_SUR2	cd03288	1.3e-24	398	710
ABCC_CFTR1	cd03291	1.3e-08	434	736
ModF	COG1119	1.6e-13	448	691
TagH	COG1134	2.8e-06	452	713
ABC_RNaseL_inhibitor	cd03222	3.8e-05	465	706
ABCC_TAP	cd03248	2.3e-50	465	685
Ttg2A	COG1127	2.1e-16	465	725
ABC_NatA_sodium_expo	cd03266	4.9e-12	466	689
PhnK	COG1101	1.2e-07	466	723
MglA	COG1129	5.7e-05	466	748
YhbG	COG1137	2.8e-07	466	701
ABCC_NFT1	cd03369	1.9e-34	468	691
PstB	COG1117	6.6e-12	468	712
ZnuC	COG1121	1.2e-12	469	718
CcmA	COG1131	1.3e-31	469	747
ABCG_PDR_domain2	cd03232	8.3e-06	470	689
ABCG_PDR_domain1	cd03233	5.6e-08	470	689
ABCG_White	cd03234	9.2e-10	470	689
ABCG_EPDR	cd03213	6.7e-16	470	689
sufC	COG0396	2.7e-07	470	700
LivF	COG0410	1.5e-13	470	701
LivG	COG0411	4.1e-11	470	698
TauB	COG1116	3.6e-14	470	717
CbiO	COG1122	4.1e-39	470	703
DppF	COG1124	1.1e-22	470	717
ABC_Carb_Monos_II	cd03215	1.6e-09	471	685
ABCC_MRP_domain2	cd03244	8e-65	471	691
ABCC_bacteriocin_exp	cd03245	4.8e-60	471	689
ABCC_Glucan_exporter	cd03254	9.4e-108	471	699
ABCC_CFTR2	cd03289	4e-24	471	750
ABC_CysA_sulfate_imp	cd03296	7e-20	471	709
CysA	COG1118	9e-08	471	750
FepC	COG1120	1.2e-15	471	733
GlnQ	COG1126	3.2e-18	471	702
ABC_RNaseL_inhibitor	cd03236	0.00025	472	738
ABC_MetN_methionine_	cd03258	1.1e-18	472	699
ABC_NikE_OppD_transp	cd03257	3.6e-30	472	689
DppD	COG0444	1.3e-12	472	753
OpuBA	COG1125	4.7e-11	472	745
AbcC	COG1135	1.3e-13	472	750
SalX	COG1136	5.2e-23	472	691
ABC_Carb_Monos_I	cd03216	2.7e-17	473	688
ABC_YhbG	cd03218	3.9e-06	473	699
ABC_KpsT_Wzt	cd03220	1.3e-10	473	689
ABCF_EF-3	cd03221	2.3e-07	473	684
ABC_TM1139_LivF_bran	cd03224	1e-15	473	697
ABCD_peroxisomal_ALD	cd03223	4.7e-10	473	685
ABCC_MRP_Like	cd03228	3.2e-114	473	684
ABC_Class3	cd03229	5.7e-44	473	684
ABC_DR_subfamily_A	cd03230	2.1e-31	473	685
ABCC_cytochrome_bd	cd03247	1.3e-74	473	689
ABCC_Protease_Secret	cd03246	5e-53	473	685
ABC_MTABC3_MDL1_MDL2	cd03249	1.1e-98	473	709
ABCC_MRP_domain1	cd03250	2.4e-19	473	684
ABCC_MsbA	cd03251	8.3e-108	473	706
ABCC_Hemolysin	cd03252	5.8e-89	473	709
ABCC_ATM1_transporte	cd03253	1.7e-164	473	709
ABC_MJ0796_LolCDE_Ft	cd03255	1.8e-18	473	685
ABC_PhnC_transporter	cd03256	1.5e-15	473	702
ABC_Carb_Solutes_lik	cd03259	3.6e-28	473	689
ABC_PstB_phosphate_t	cd03260	2.3e-26	473	694
ABC_Org_Solvent_Resi	cd03261	1.1e-21	473	705
ABC_HisP_GlnQ	cd03262	5.7e-19	473	685
ABC_subfamily_A	cd03263	2.1e-12	473	695
ABC_DrrA	cd03265	4.5e-10	473	695
ABC_NatA_like	cd03267	2.9e-05	473	689
ABC_BcrA_bacitracin_	cd03268	1.2e-10	473	689
ABC_putative_ATPase	cd03269	8.1e-09	473	689
ABC_drug_resistance_	cd03264	9.6e-12	473	689
ABCC_SUR1_N	cd03290	1e-13	473	684
ABC_FtsE_transporter	cd03292	9.9e-17	473	685
ABC_NrtD_SsuB_transp	cd03293	8.2e-19	473	693
ABC_Pro_Gly_Betaine	cd03294	1.4e-13	473	705
ABC_OpuCA_Osmoprotec	cd03295	1.8e-15	473	714
ABC_ThiQ_thiamine_tr	cd03298	2e-12	473	689
ABC_PotA_N	cd03300	5.3e-14	473	702
ABC_MalK_N	cd03301	3.4e-12	473	689
ABC_ATPase	cd00267	1.5e-62	474	684
ABC_Iron-Siderophore	cd03214	1.9e-22	474	689
ABC_cobalt_CbiO_doma	cd03225	9.4e-38	474	684
ABC_Metallic_Cations	cd03235	4.2e-13	474	688
ABC_cobalt_CbiO_doma	cd03226	8.3e-15	474	686
ABC_FeS_Assembly	cd03217	1.9e-07	477	694
ABC_ModC_like	cd03299	2.5e-15	478	701
ABC_RNaseL_inhibitor	cd03237	1.2e-05	480	728
ABC_UvrA	cd03238	1.5e-05	481	689
ABC_Mj1267_LivG_bran	cd03219	2.2e-14	483	700
ABC_CcmA_heme_export	cd03231	4.8e-07	484	686
ABC_ModC_molybdenum_	cd03297	1.3e-13	486	689
SunT	COG2274	1.3e-72	1	710
COG4178	COG4178	0.00039	100	698
PvdE	COG4615	4.1e-08	121	699
CydC	COG4987	3.1e-24	122	709
CydD	COG4988	7.1e-33	140	715
ABC_membrane	pfam00664	3.7e-29	141	425
ATM1	COG5265	3.2e-273	210	708
ArpD	COG4618	3e-15	241	714
COG4172	COG4172	2.7e-07	333	714
COG4586	COG4586	2.2e-05	456	750
SapF	COG4167	3.5e-09	460	725
PhnK	COG4107	1.2e-07	466	715
COG4181	COG4181	4.1e-12	467	689
PotA	COG3842	1.1e-10	468	749
ProV	COG4175	6.2e-07	469	749
HisP	COG4598	8.2e-17	469	712
AppF	COG4608	7.1e-16	469	747
PhnL	COG4778	2.3e-08	469	687
COG3638	COG3638	2.1e-14	470	711
MalK	COG3839	3.9e-11	470	745
COG4619	COG4619	4.6e-12	470	696
COG4152	COG4152	0.00099	471	752
ArtP	COG4161	1.8e-18	471	709
COG4136	COG4136	2.9e-06	471	688
TauB	COG4525	1.4e-09	471	716
FtsE	COG2884	8.2e-16	472	693
ThiQ	COG3840	3.9e-12	472	708
NatA	COG4555	1.1e-14	472	714
COG4559	COG4559	3e-08	472	725
CcmA	COG4133	1.7e-07	473	688
CeuD	COG4604	2.7e-05	473	722
ModC	COG4148	2.6e-09	477	747
BtuD	COG4138	5.4e-07	478	725
ABC_tran	pfam00005	5.2e-38	513	638
AAA	smart00382	2.3e-32	498	684

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1340989	Polymorphism	p.ALA581VAL	N/A
dbSNP	rs1133577	Polymorphism	p.GLY291CYS	N/A
OMIM	300135.0002	Disease	p.GLU433LYS	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0001	Disease	p.ILE400MET	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0003	Disease	p.VAL411LEU	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