Results for the protein: Q09428

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ABCC_CFTR1	cd03291	2.6e-32	644	947
Ttg2A	COG1127	7e-09	668	946
ABCG_EPDR	cd03213	6.1e-08	669	911
ABC_ATPase	cd00267	1.3e-39	673	906
ZnuC	COG1121	3.3e-09	675	941
ABC_ModC_molybdenum_	cd03297	5.1e-08	676	911
TauB	COG1116	4.6e-10	676	940
ABC_CysA_sulfate_imp	cd03296	1.1e-06	677	932
OpuBA	COG1125	3.5e-07	678	1019
AbcC	COG1135	2e-07	678	991
SalX	COG1136	1e-11	678	913
ABCC_MRP_Like	cd03228	6.4e-54	679	906
ABC_Class3	cd03229	9.2e-11	679	906
ABC_DR_subfamily_A	cd03230	6.9e-11	679	907
ABCG_PDR_domain1	cd03233	7.8e-05	679	911
ABCC_cytochrome_bd	cd03247	3.7e-14	679	911
ABCC_MRP_domain1	cd03250	2.2e-116	679	906
ABCC_Hemolysin	cd03252	8.9e-12	679	934
ABC_MJ0796_LolCDE_Ft	cd03255	1.8e-11	679	907
ABC_Carb_Solutes_lik	cd03259	1.9e-10	679	911
ABC_Org_Solvent_Resi	cd03261	9.3e-12	679	927
ABC_subfamily_A	cd03263	5e-08	679	917
ABCC_SUR1_N	cd03290	6.8e-178	679	906
ABC_NrtD_SsuB_transp	cd03293	3.1e-13	679	915
ABC_OpuCA_Osmoprotec	cd03295	6.5e-07	679	923
ABC_MalK_N	cd03301	1.1e-08	679	911
ABC_Pro_Gly_Betaine	cd03294	1.9e-06	679	921
CysA	COG1118	6.1e-06	679	1008
FepC	COG1120	9.1e-10	679	933
ABC_cobalt_CbiO_doma	cd03225	2.1e-15	680	906
CcmA	COG1131	1.1e-10	680	990
ABCG_White	cd03234	2.5e-06	681	911
ABC_DrrA	cd03265	0.00036	681	914
CbiO	COG1122	5.2e-12	681	926
ABCC_bacteriocin_exp	cd03245	4.2e-18	683	911
ABC_UvrA_II	cd03271	7.7e-05	686	913
ABC_Carb_Monos_II	cd03215	2e-06	688	907
ABC_UvrA	cd03238	3.2e-06	688	911
MglA	COG1129	0.00025	688	1107
ABCD_peroxisomal_ALD	cd03223	1.6e-08	689	907
ABCC_Protease_Secret	cd03246	1.2e-15	689	907
DppD	COG0444	1.6e-05	689	992
ABC_PhnC_transporter	cd03256	1.1e-10	690	924
ABC_FtsE_transporter	cd03292	2.5e-08	690	907
ABC_Metallic_Cations	cd03235	6.4e-09	691	910
ABC_CcmA_heme_export	cd03231	0.00015	691	903
ABC_PotA_N	cd03300	1.3e-05	691	915
ABCC_Glucan_exporter	cd03254	8.7e-14	692	915
ABC_ThiQ_thiamine_tr	cd03298	9.6e-07	695	911
ABC_ModC_like	cd03299	3.4e-05	695	930
MdlB	COG1132	1.4e-113	986	1581
COG1123	COG1123	3.7e-07	1183	1578
ABCC_SUR2	cd03288	1.6e-242	1267	1581
ModF	COG1119	1.2e-08	1316	1562
ABCC_TAP	cd03248	1e-12	1327	1556
ABCC_NFT1	cd03369	1.3e-96	1338	1562
PstB	COG1117	7e-08	1340	1577
YhbG	COG1137	4e-05	1340	1575
sufC	COG0396	0.00061	1341	1569
LivF	COG0410	1.7e-08	1341	1577
LivG	COG0411	1.4e-05	1341	1564
CbiO	COG1122	8e-13	1341	1574
DppF	COG1124	1.8e-08	1341	1578
ABCC_MRP_domain2	cd03244	5.2e-140	1342	1562
ABCC_bacteriocin_exp	cd03245	4e-31	1342	1556
ABCC_Glucan_exporter	cd03254	1.4e-68	1342	1570
ABCC_CFTR2	cd03289	1.8e-36	1342	1581
GlnQ	COG1126	9.2e-07	1342	1581
ABC_MetN_methionine_	cd03258	4.5e-09	1343	1563
ABC_NikE_OppD_transp	cd03257	2.6e-13	1343	1560
CcmA	COG1131	3.2e-10	1343	1579
ABC_Carb_Monos_I	cd03216	1.9e-11	1344	1559
ABC_YhbG	cd03218	8e-05	1344	1570
ABC_Mj1267_LivG_bran	cd03219	5e-08	1344	1571
ABC_KpsT_Wzt	cd03220	1.9e-05	1344	1560
ABCF_EF-3	cd03221	4.3e-05	1344	1555
ABC_FeS_Assembly	cd03217	4.7e-06	1344	1572
ABC_TM1139_LivF_bran	cd03224	2.3e-09	1344	1568
ABCC_MRP_Like	cd03228	2.4e-78	1344	1555
ABC_Class3	cd03229	4e-12	1344	1555
ABC_DR_subfamily_A	cd03230	1.1e-12	1344	1556
ABCC_Protease_Secret	cd03246	2.9e-20	1344	1556
ABCC_cytochrome_bd	cd03247	8.8e-28	1344	1560
ABC_MTABC3_MDL1_MDL2	cd03249	4.2e-28	1344	1580
ABCC_MRP_domain1	cd03250	3.2e-16	1344	1555
ABCC_Hemolysin	cd03252	7.9e-34	1344	1580
ABCC_ATM1_transporte	cd03253	2.9e-30	1344	1580
ABCC_MsbA	cd03251	3.6e-27	1344	1577
ABC_HisP_GlnQ	cd03262	3.8e-10	1344	1556
ABC_drug_resistance_	cd03264	7.6e-07	1344	1560
ABC_PstB_phosphate_t	cd03260	8e-11	1344	1565
ABC_NatA_sodium_expo	cd03266	2.8e-07	1344	1560
ABC_BcrA_bacitracin_	cd03268	0.00038	1344	1560
ABCC_SUR1_N	cd03290	4.7e-09	1344	1555
PhnK	COG1101	7.6e-07	1344	1581
ABC_ATPase	cd00267	1.4e-47	1345	1555
ABC_Iron-Siderophore	cd03214	1.3e-10	1345	1560
ABC_cobalt_CbiO_doma	cd03225	6.1e-17	1345	1555
ABC_cobalt_CbiO_doma	cd03226	1.4e-08	1345	1557
ABC_membrane	pfam00664	2.3e-49	318	590
ProV	COG4175	6.6e-05	650	1008
COG4181	COG4181	5.7e-06	672	911
HisP	COG4598	8e-06	673	928
PotA	COG3842	6.2e-05	674	1055
COG4559	COG4559	0.00039	674	936
AppF	COG4608	4.7e-08	675	983
COG4619	COG4619	2.1e-09	676	918
ArtP	COG4161	8.4e-08	677	930
TauB	COG4525	6.3e-07	678	942
CcmA	COG4133	7.1e-06	679	891
CeuD	COG4604	7.5e-08	687	939
COG3638	COG3638	5.1e-10	690	945
MalK	COG3839	3.3e-06	691	1030
COG4136	COG4136	3.1e-05	692	910
ThiQ	COG3840	1.2e-07	695	929
ABC_tran	pfam00005	4.4e-15	720	857
SunT	COG2274	1.4e-17	837	1581
PvdE	COG4615	2.1e-07	1011	1574
CydD	COG4988	2.6e-19	1011	1581
ABC_membrane	pfam00664	2.1e-53	1012	1294
CydC	COG4987	1.8e-10	1046	1580
ATM1	COG5265	3.6e-15	1075	1579
ArpD	COG4618	6.4e-10	1128	1576
COG4172	COG4172	2e-05	1142	1579
FtsE	COG2884	1.9e-07	1343	1555
ArtP	COG4161	7.5e-06	1343	1579
COG4619	COG4619	3.4e-08	1343	1567
BtuD	COG4138	0.00073	1344	1569
SapF	COG4167	0.00011	1344	1581
NatA	COG4555	2.5e-11	1344	1579
ABC_tran	pfam00005	4e-15	1385	1509
AAA	smart00382	1.2e-15	705	913
AAA	smart00382	3.7e-19	1370	1563

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_031356	Disease	p.ALA116PRO	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
dbSNP	rs757110	Polymorphism	p.ALA1369SER	N/A
Swiss-Prot	VAR_031383	Disease	p.ALA1457THR	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_029785	Disease	p.ARG1379CYS	Transient neonatal diabetes mellitus 2 (TNDM2)
Swiss-Prot	VAR_008539	Disease	p.ARG1420CYS	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031365	Disease	p.ARG620CYS	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008648	Polymorphism	p.ARG834CYS	N/A
Swiss-Prot	VAR_029783	Disease	p.ARG1182GLN	Transient neonatal diabetes mellitus 2 (TNDM2)
Swiss-Prot	VAR_008650	Disease	p.ARG1214GLN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_015008	Disease	p.ARG1436GLN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031387	Disease	p.ARG1493GLN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008643	Polymorphism	p.ARG275GLN	N/A
Swiss-Prot	VAR_031360	Disease	p.ARG495GLN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008639	Disease	p.ARG74GLN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031368	Disease	p.ARG841GLY	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_029784	Disease	p.ARG1352HIS	Leucine-induced hypoglycemia (LIH)
Swiss-Prot	VAR_008655	Disease	p.ARG1393HIS	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031381	Disease	p.ARG1418HIS	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031386	Disease	p.ARG1486LYS	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008537	Disease	p.ARG1352PRO	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031373	Disease	p.ARG1214TRP	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008540	Disease	p.ARG1493TRP	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031353	Disease	p.ARG74TRP	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008644	Disease	p.ASN406ASP	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031374	Disease	p.ASN1295LYS	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008642	Disease	p.ASN188SER	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031385	Disease	p.ASP1471ASN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031358	Disease	p.ASP310ASN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_015006	Polymorphism	p.ASP673ASN	N/A
Swiss-Prot	VAR_008647	Polymorphism	p.ASP810ASN	N/A
Swiss-Prot	VAR_031384	Disease	p.ASP1471HIS	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031359	Disease	p.CYS418ARG	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_029780	Disease	p.CYS435ARG	Transient neonatal diabetes mellitus 2 (TNDM2)
Swiss-Prot	VAR_015009	Disease	p.GLU1506LYS	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031361	Disease	p.GLU501LYS	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031355	Disease	p.GLY111ARG	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008653	Disease	p.GLY1378ARG	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031380	Disease	p.GLY1400ARG	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008656	Disease	p.GLY1478ARG	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031349	Disease	p.GLY7ARG	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031376	Disease	p.GLY1342GLU	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031352	Disease	p.GLY70GLU	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008654	Disease	p.GLY1381SER	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_000100	Disease	p.GLY716VAL	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008640	Disease	p.HIS125GLN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_029782	Disease	p.HIS1023TYR	Transient neonatal diabetes mellitus 2 (TNDM2)
Swiss-Prot	VAR_029787	Disease	p.ILE1424VAL	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031372	Disease	p.LEU1147ARG	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_029779	Disease	p.LEU213ARG	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031377	Disease	p.LEU1349GLN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031382	Disease	p.LEU1450PRO	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_015010	Disease	p.LEU1543PRO	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031362	Disease	p.LEU503PRO	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031363	Disease	p.LEU508PRO	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_029777	Polymorphism	p.LEU104VAL	N/A
Swiss-Prot	VAR_031389	Disease	p.LEU1551VAL	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_029781	Disease	p.LEU582VAL	Transient neonatal diabetes mellitus 2 (TNDM2)
Swiss-Prot	VAR_031375	Disease	p.LYS1336ASN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
dbSNP	rs1799858	Polymorphism	p.LYS649ASN	N/A
Swiss-Prot	VAR_031378	Disease	p.LYS1384GLN	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031367	Disease	p.LYS719THR	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031369	Disease	p.LYS889THR	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031357	Disease	p.MET233ARG	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_029778	Disease	p.PHE132LEU	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_008646	Disease	p.PHE591LEU	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031351	Disease	p.PHE27SER	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031366	Disease	p.PHE686SER	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031364	Disease	p.PRO551ARG	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031379	Disease	p.SER1386PHE	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031370	Disease	p.SER956PHE	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008649	Disease	p.THR1138MET	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031371	Disease	p.THR1130PRO	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031354	Disease	p.VAL86ALA	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031388	Disease	p.VAL1550ASP	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008641	Disease	p.VAL187ASP	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_031350	Disease	p.VAL21ASP	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008651	Polymorphism	p.VAL1360GLY	N/A
dbSNP	rs8192690	Polymorphism	p.VAL1572ILE	N/A
Swiss-Prot	VAR_015007	Disease	p.VAL1360MET	Familial hyperinsulinemic hypoglycemia 1 (HHF1)
Swiss-Prot	VAR_008645	Polymorphism	p.VAL560MET	N/A

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.

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