Results for the protein: NP

Results for the Protein: NP_001258625

411147363

22

ABCB7

NCBI

ATP-binding cassette sub-family B member 7, mitochondrial isoform 2 [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_001258625

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG1123	COG1123	3.2e-12	225	715
Uup	COG0488	0.00081	292	700
ABCC_SUR2	cd03288	1.3e-24	397	709
ABCC_CFTR1	cd03291	1.3e-08	433	735
ModF	COG1119	1.6e-13	447	690
TagH	COG1134	2.8e-06	451	712
ABC_RNaseL_inhibitor	cd03222	3.8e-05	464	705
ABCC_TAP	cd03248	2.3e-50	464	684
Ttg2A	COG1127	2.1e-16	464	724
ABC_NatA_sodium_expo	cd03266	4.9e-12	465	688
PhnK	COG1101	1.2e-07	465	722
MglA	COG1129	5.7e-05	465	747
YhbG	COG1137	2.8e-07	465	700
ABCC_NFT1	cd03369	1.9e-34	467	690
PstB	COG1117	6.6e-12	467	711
ZnuC	COG1121	1.2e-12	468	717
CcmA	COG1131	1.3e-31	468	746
ABCG_EPDR	cd03213	6.7e-16	469	688
ABCG_PDR_domain2	cd03232	8.3e-06	469	688
ABCG_PDR_domain1	cd03233	5.6e-08	469	688
ABCG_White	cd03234	9.2e-10	469	688
sufC	COG0396	2.7e-07	469	699
LivF	COG0410	1.5e-13	469	700
LivG	COG0411	4.1e-11	469	697
TauB	COG1116	3.6e-14	469	716
CbiO	COG1122	4.1e-39	469	702
DppF	COG1124	1.1e-22	469	716
ABC_Carb_Monos_II	cd03215	1.6e-09	470	684
ABCC_MRP_domain2	cd03244	8e-65	470	690
ABCC_bacteriocin_exp	cd03245	4.8e-60	470	688
ABCC_Glucan_exporter	cd03254	9.4e-108	470	698
ABCC_CFTR2	cd03289	4e-24	470	749
ABC_CysA_sulfate_imp	cd03296	7e-20	470	708
CysA	COG1118	9e-08	470	749
FepC	COG1120	1.2e-15	470	732
GlnQ	COG1126	3.2e-18	470	701
ABC_RNaseL_inhibitor	cd03236	0.00025	471	737
ABC_NikE_OppD_transp	cd03257	3.6e-30	471	688
ABC_MetN_methionine_	cd03258	1.1e-18	471	698
DppD	COG0444	1.3e-12	471	752
OpuBA	COG1125	4.7e-11	471	744
AbcC	COG1135	1.3e-13	471	749
SalX	COG1136	5.2e-23	471	690
ABC_Carb_Monos_I	cd03216	2.7e-17	472	687
ABC_YhbG	cd03218	3.9e-06	472	698
ABC_KpsT_Wzt	cd03220	1.3e-10	472	688
ABCF_EF-3	cd03221	2.3e-07	472	683
ABC_TM1139_LivF_bran	cd03224	1e-15	472	696
ABCD_peroxisomal_ALD	cd03223	4.7e-10	472	684
ABCC_MRP_Like	cd03228	3.2e-114	472	683
ABC_Class3	cd03229	5.7e-44	472	683
ABCC_Protease_Secret	cd03246	5e-53	472	684
ABCC_cytochrome_bd	cd03247	1.3e-74	472	688
ABC_MTABC3_MDL1_MDL2	cd03249	1.1e-98	472	708
ABCC_MRP_domain1	cd03250	2.4e-19	472	683
ABCC_MsbA	cd03251	8.3e-108	472	705
ABC_DR_subfamily_A	cd03230	2.1e-31	472	684
ABCC_Hemolysin	cd03252	5.8e-89	472	708
ABCC_ATM1_transporte	cd03253	1.7e-164	472	708
ABC_MJ0796_LolCDE_Ft	cd03255	1.8e-18	472	684
ABC_Carb_Solutes_lik	cd03259	3.6e-28	472	688
ABC_PstB_phosphate_t	cd03260	2.3e-26	472	693
ABC_Org_Solvent_Resi	cd03261	1.1e-21	472	704
ABC_HisP_GlnQ	cd03262	5.7e-19	472	684
ABC_subfamily_A	cd03263	2.1e-12	472	694
ABC_drug_resistance_	cd03264	9.6e-12	472	688
ABC_DrrA	cd03265	4.5e-10	472	694
ABC_BcrA_bacitracin_	cd03268	1.2e-10	472	688
ABC_putative_ATPase	cd03269	8.1e-09	472	688
ABC_PhnC_transporter	cd03256	1.5e-15	472	701
ABC_NatA_like	cd03267	2.9e-05	472	688
ABC_FtsE_transporter	cd03292	9.9e-17	472	684
ABC_NrtD_SsuB_transp	cd03293	8.2e-19	472	692
ABC_Pro_Gly_Betaine	cd03294	1.4e-13	472	704
ABC_OpuCA_Osmoprotec	cd03295	1.8e-15	472	713
ABCC_SUR1_N	cd03290	1e-13	472	683
ABC_ThiQ_thiamine_tr	cd03298	2e-12	472	688
ABC_PotA_N	cd03300	5.3e-14	472	701
ABC_MalK_N	cd03301	3.4e-12	472	688
ABC_ATPase	cd00267	1.5e-62	473	683
ABC_Iron-Siderophore	cd03214	1.9e-22	473	688
ABC_cobalt_CbiO_doma	cd03226	8.3e-15	473	685
ABC_cobalt_CbiO_doma	cd03225	9.4e-38	473	683
ABC_Metallic_Cations	cd03235	4.2e-13	473	687
ABC_FeS_Assembly	cd03217	1.9e-07	476	693
ABC_ModC_like	cd03299	2.5e-15	477	700
ABC_RNaseL_inhibitor	cd03237	1.2e-05	479	727
ABC_UvrA	cd03238	1.5e-05	480	688
ABC_Mj1267_LivG_bran	cd03219	2.2e-14	482	699
ABC_CcmA_heme_export	cd03231	4.8e-07	483	685
ABC_ModC_molybdenum_	cd03297	1.3e-13	485	688
SunT	COG2274	3.1e-73	1	709
COG4178	COG4178	0.00039	99	697
PvdE	COG4615	4.1e-08	120	698
CydC	COG4987	3.1e-24	121	708
CydD	COG4988	7.1e-33	139	714
ABC_membrane	pfam00664	3.7e-29	140	424
ATM1	COG5265	3.2e-273	209	707
ArpD	COG4618	3e-15	240	713
COG4172	COG4172	2.7e-07	332	713
COG4586	COG4586	2.2e-05	455	749
SapF	COG4167	3.5e-09	459	724
PhnK	COG4107	1.2e-07	465	714
COG4181	COG4181	4.1e-12	466	688
PotA	COG3842	1.1e-10	467	748
ProV	COG4175	6.2e-07	468	748
HisP	COG4598	8.2e-17	468	711
AppF	COG4608	7.1e-16	468	746
PhnL	COG4778	2.3e-08	468	686
COG3638	COG3638	2.1e-14	469	710
MalK	COG3839	3.9e-11	469	744
COG4619	COG4619	4.6e-12	469	695
COG4136	COG4136	2.9e-06	470	687
COG4152	COG4152	0.00099	470	751
ArtP	COG4161	1.8e-18	470	708
TauB	COG4525	1.4e-09	470	715
FtsE	COG2884	8.2e-16	471	692
ThiQ	COG3840	3.9e-12	471	707
NatA	COG4555	1.1e-14	471	713
COG4559	COG4559	3e-08	471	724
CcmA	COG4133	1.7e-07	472	687
CeuD	COG4604	2.7e-05	472	721
ModC	COG4148	2.6e-09	476	746
BtuD	COG4138	5.4e-07	477	724
ABC_tran	pfam00005	5.2e-38	512	637
AAA	smart00382	2.3e-32	497	683

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	300135.0002	Disease	p.GLU432LYS	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0001	Disease	p.ILE399MET	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0003	Disease	p.VAL410LEU	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