Results for the protein: P13569

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ABCC_CFTR1	cd03291	4.5e-218	389	670
TagH	COG1134	2.8e-07	389	644
ABC_KpsT_Wzt	cd03220	7.2e-09	392	628
ABCC_MRP_Like	cd03228	3.3e-75	392	623
ABCC_MRP_domain1	cd03250	1.3e-111	392	623
ABC_Pro_Gly_Betaine	cd03294	9e-05	392	652
ABC_MalK_N	cd03301	2.6e-08	392	628
ABC_ATPase	cd00267	3.1e-64	393	623
ABCG_PDR_domain1	cd03233	1.2e-07	409	628
ABCG_White	cd03234	1.2e-06	418	628
CbiO	COG1122	4.8e-09	418	649
ABCC_SUR1_N	cd03290	1.7e-36	419	623
CcmA	COG1131	4.4e-11	420	717
ABC_subfamily_A	cd03263	1.1e-10	421	634
ABCC_CFTR2	cd03289	4.2e-06	424	684
ABC_Carb_Monos_II	cd03215	7.9e-11	424	624
TauB	COG1116	8.7e-09	425	659
ABC_NatA_like	cd03267	6.6e-06	426	628
YhbG	COG1137	1.1e-05	426	642
ABC_CysA_sulfate_imp	cd03296	4.2e-07	427	647
OpuBA	COG1125	8.5e-05	427	717
ABCF_EF-3	cd03221	2.6e-07	428	623
ABC_Class3	cd03229	4e-12	428	623
ABCC_Protease_Secret	cd03246	3.5e-16	428	624
ABCC_cytochrome_bd	cd03247	8.5e-16	428	628
ABC_OpuCA_Osmoprotec	cd03295	7.7e-08	428	651
ABC_ModC_like	cd03299	1.6e-09	428	650
CysA	COG1118	2.2e-06	428	704
ABC_cobalt_CbiO_doma	cd03225	3.6e-14	429	623
MglA	COG1129	0.0002	431	779
ABC_Metallic_Cations	cd03235	1.3e-10	432	627
ABCC_Glucan_exporter	cd03254	3.4e-14	432	638
ABC_Carb_Monos_I	cd03216	1.8e-09	433	627
ABC_RNaseL_inhibitor	cd03222	3.4e-05	435	641
ABC_CcmA_heme_export	cd03231	9.4e-05	437	624
ABC_DR_subfamily_A	cd03230	2e-12	437	624
ABC_PotA_N	cd03300	4.6e-05	437	646
ABC_RNaseL_inhibitor	cd03237	1.1e-05	441	646
ABC_ModC_molybdenum_	cd03297	4.2e-08	441	628
MdlB	COG1132	2.4e-85	843	1447
COG1123	COG1123	6.8e-06	1080	1446
ABCC_SUR2	cd03288	7.9e-55	1116	1445
ABCC_CFTR1	cd03291	4.5e-07	1171	1465
ModF	COG1119	3.3e-08	1180	1427
ABCC_NFT1	cd03369	1.8e-45	1204	1427
PstB	COG1117	7.6e-06	1205	1438
Ttg2A	COG1127	8.1e-10	1205	1459
LivG	COG0411	1.4e-06	1206	1423
ZnuC	COG1121	3e-10	1206	1460
ABCG_EPDR	cd03213	1.4e-09	1207	1418
DppF	COG1124	4.4e-09	1207	1447
CbiO	COG1122	1.1e-22	1207	1439
ABCC_MRP_domain2	cd03244	5.2e-102	1208	1427
ABCC_bacteriocin_exp	cd03245	4e-18	1208	1421
ABCC_TAP	cd03248	2.4e-07	1208	1421
ABCC_Glucan_exporter	cd03254	1.7e-20	1208	1435
ABCC_CFTR2	cd03289	3.3e-205	1208	1480
GlnQ	COG1126	4.1e-06	1208	1431
FepC	COG1120	2.8e-11	1208	1454
ABC_MetN_methionine_	cd03258	5.7e-10	1209	1435
ABC_NikE_OppD_transp	cd03257	6.8e-13	1209	1419
DppD	COG0444	9.5e-08	1209	1462
CcmA	COG1131	1.7e-15	1209	1477
AbcC	COG1135	4.4e-06	1209	1477
SalX	COG1136	9.8e-12	1209	1428
ABC_YhbG	cd03218	1.4e-05	1210	1424
ABC_Mj1267_LivG_bran	cd03219	4.5e-09	1210	1421
ABCF_EF-3	cd03221	7.7e-09	1210	1420
ABCD_peroxisomal_ALD	cd03223	2.9e-07	1210	1424
ABC_TM1139_LivF_bran	cd03224	1.7e-12	1210	1433
ABC_Class3	cd03229	2.7e-12	1210	1420
ABCC_MRP_Like	cd03228	4.5e-67	1210	1420
ABCC_Protease_Secret	cd03246	1.7e-18	1210	1421
ABCC_cytochrome_bd	cd03247	9.3e-27	1210	1425
ABCC_MsbA	cd03251	1.5e-20	1210	1441
ABC_MTABC3_MDL1_MDL2	cd03249	2.7e-13	1210	1444
ABCC_Hemolysin	cd03252	3.4e-12	1210	1444
ABCC_MRP_domain1	cd03250	2.1e-14	1210	1420
ABCC_ATM1_transporte	cd03253	2.7e-16	1210	1439
ABC_MJ0796_LolCDE_Ft	cd03255	9.4e-11	1210	1421
ABC_PstB_phosphate_t	cd03260	3.9e-10	1210	1413
ABC_Carb_Solutes_lik	cd03259	2.9e-12	1210	1425
ABC_Org_Solvent_Resi	cd03261	1.1e-11	1210	1440
ABC_HisP_GlnQ	cd03262	4e-08	1210	1404
ABC_DR_subfamily_A	cd03230	5.5e-20	1210	1421
ABC_NatA_sodium_expo	cd03266	2.9e-07	1210	1426
ABC_BcrA_bacitracin_	cd03268	4.4e-08	1210	1425
ABC_putative_ATPase	cd03269	1.5e-08	1210	1425
ABC_DrrA	cd03265	2.1e-07	1210	1431
ABC_PhnC_transporter	cd03256	3.9e-09	1210	1428
ABC_drug_resistance_	cd03264	9.9e-08	1210	1425
ABC_FtsE_transporter	cd03292	6.8e-09	1210	1421
ABC_NrtD_SsuB_transp	cd03293	2.7e-11	1210	1431
LivF	COG0410	1.7e-11	1210	1447
PhnK	COG1101	2.4e-05	1210	1450
ABC_ATPase	cd00267	1.7e-46	1211	1420
ABC_Iron-Siderophore	cd03214	1.1e-12	1211	1425
ABC_cobalt_CbiO_doma	cd03225	6e-22	1211	1420
ABC_cobalt_CbiO_doma	cd03226	1.5e-09	1211	1422
ABC_ThiQ_thiamine_tr	cd03298	0.00012	1225	1425
ABC_membrane	pfam00664	4.4e-54	81	350
MalK	COG3839	2.4e-06	389	758
COG4586	COG4586	8.7e-05	397	698
COG4674	COG4674	0.00063	415	650
COG4181	COG4181	0.00018	421	625
PotA	COG3842	1.4e-05	423	762
CcmA	COG4133	2.4e-06	426	627
TauB	COG4525	1.1e-09	426	673
ModC	COG4148	0.00078	432	779
COG4152	COG4152	1.3e-05	440	685
ABC_tran	pfam00005	3e-30	465	576
SunT	COG2274	9.3e-12	709	1445
CydC	COG4987	1.7e-10	855	1444
PvdE	COG4615	2.6e-05	856	1425
CydD	COG4988	8.3e-16	860	1454
ABC_membrane	pfam00664	1.7e-64	862	1147
ATM1	COG5265	1.4e-09	937	1439
ArpD	COG4618	1.6e-09	959	1446
HisP	COG4598	0.00066	1206	1446
COG3638	COG3638	3.3e-10	1207	1451
COG4136	COG4136	3.3e-05	1208	1419
FtsE	COG2884	4.6e-07	1209	1429
ThiQ	COG3840	3.7e-06	1209	1442
ArtP	COG4161	3.6e-06	1209	1443
COG4559	COG4559	3.7e-05	1209	1468
COG4619	COG4619	3.5e-07	1209	1426
SapF	COG4167	0.00045	1210	1450
NatA	COG4555	8.8e-11	1210	1447
AppF	COG4608	1.3e-05	1210	1474
ABC_tran	pfam00005	7.7e-34	1251	1374
AAA	smart00382	2e-48	450	801
AAA	smart00382	1.2e-15	1236	1418

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_000127	Disease	p.ALA141ASP	Cystic fibrosis (CF)
Swiss-Prot	VAR_000229	Disease	p.ALA1006GLU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000160	Disease	p.ALA455GLU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000217	Disease	p.ALA800GLY	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000239	Disease	p.ALA1067THR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000125	Disease	p.ALA120THR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000183	Disease	p.ALA559THR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000200	Disease	p.ALA613THR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000240	Polymorphism	p.ALA1067VAL	N/A
Swiss-Prot	VAR_000269	Disease	p.ALA1364VAL	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000236	Disease	p.ARG1066CYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000121	Disease	p.ARG117CYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000102	Polymorphism	p.ARG31CYS	N/A
Swiss-Prot	VAR_000212	Polymorphism	p.ARG668CYS	N/A
Swiss-Prot	VAR_000241	Disease	p.ARG1070GLN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000141	Disease	p.ARG297GLN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000156	Disease	p.ARG352GLN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000181	Disease	p.ARG553GLN	Cystic fibrosis (CF)
dbSNP	rs1800076	Polymorphism	p.ARG75GLN	N/A
Swiss-Prot	VAR_000139	Disease	p.ARG258GLY	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000216	Disease	p.ARG792GLY	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000237	Disease	p.ARG1066HIS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000122	Disease	p.ARG117HIS	Cystic fibrosis (CF)
Swiss-Prot	VAR_009896	Polymorphism	p.ARG170HIS	N/A
Swiss-Prot	VAR_000153	Disease	p.ARG347HIS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000238	Disease	p.ARG1066LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000252	Polymorphism	p.ARG1162LEU	N/A
Swiss-Prot	VAR_000123	Disease	p.ARG117LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000103	Disease	p.ARG31LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000154	Disease	p.ARG347LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000184	Disease	p.ARG560LYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000262	Disease	p.ARG1283MET	Cystic fibrosis (CF)
Swiss-Prot	VAR_000215	Disease	p.ARG766MET	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000242	Disease	p.ARG1070PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_000124	Disease	p.ARG117PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_000155	Disease	p.ARG347PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_000185	Disease	p.ARG560SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_000186	Disease	p.ARG560THR	Cystic fibrosis (CF)
Swiss-Prot	VAR_011564	Disease	p.ARG1070TRP	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_048152	Polymorphism	p.ARG1453TRP	N/A
Swiss-Prot	VAR_000148	Disease	p.ARG334TRP	Cystic fibrosis (CF)
Swiss-Prot	VAR_000110	Disease	p.ARG74TRP	Cystic fibrosis (CF)
Swiss-Prot	VAR_000266	Disease	p.ASN1303HIS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000267	Disease	p.ASN1303LYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000140	Disease	p.ASN287TYR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000260	Disease	p.ASP1270ASN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000194	Disease	p.ASP572ASN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000210	Disease	p.ASP651ASN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000105	Disease	p.ASP44GLY	Cystic fibrosis (CF)
Swiss-Prot	VAR_000173	Disease	p.ASP513GLY	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000197	Disease	p.ASP579GLY	Cystic fibrosis (CF)
Swiss-Prot	VAR_000201	Disease	p.ASP614GLY	Cystic fibrosis (CF)
Swiss-Prot	VAR_000119	Disease	p.ASP110HIS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000251	Disease	p.ASP1152HIS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000106	Polymorphism	p.ASP44VAL	N/A
Swiss-Prot	VAR_000209	Disease	p.ASP648VAL	Cystic fibrosis (CF)
Swiss-Prot	VAR_000137	Disease	p.CYS225ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000221	Disease	p.CYS866TYR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000265	Disease	p.GLN1291ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000116	Disease	p.GLN98ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000264	Disease	p.GLN1291HIS	Cystic fibrosis (CF)
Swiss-Prot	VAR_009900	Polymorphism	p.GLN353HIS	N/A
Swiss-Prot	VAR_000157	Disease	p.GLN359LYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000243	Disease	p.GLN1071PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_000167	Disease	p.GLU504GLN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000132	Disease	p.GLU193LYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000219	Disease	p.GLU822LYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000220	Polymorphism	p.GLU826LYS	N/A
Swiss-Prot	VAR_000115	Disease	p.GLU92LYS	Cystic fibrosis (CF)
dbSNP	rs1800098	Polymorphism	p.GLY576ALA	N/A
Swiss-Prot	VAR_000233	Disease	p.GLY1061ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000129	Disease	p.GLY149ARG	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000130	Disease	p.GLY178ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000147	Disease	p.GLY314ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000207	Disease	p.GLY628ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000114	Disease	p.GLY91ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000268	Disease	p.GLY1349ASP	Cystic fibrosis (CF)
Swiss-Prot	VAR_000179	Disease	p.GLY551ASP	Cystic fibrosis (CF)
Swiss-Prot	VAR_000206	Polymorphism	p.GLY622ASP	N/A
Swiss-Prot	VAR_000165	Disease	p.GLY480CYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000256	Disease	p.GLY1244GLU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000257	Disease	p.GLY1249GLU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000146	Disease	p.GLY314GLU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000112	Disease	p.GLY85GLU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000180	Disease	p.GLY551SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_000162	Disease	p.GLY458VAL	Cystic fibrosis (CF)
Swiss-Prot	VAR_000175	Disease	p.GLY544VAL	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000246	Disease	p.HIS1085ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000126	Disease	p.HIS139ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000133	Disease	p.HIS199GLN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000205	Disease	p.HIS620GLN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000204	Disease	p.HIS620PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_000134	Disease	p.HIS199TYR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000225	Disease	p.HIS949TYR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000228	Disease	p.ILE1005ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000150	Disease	p.ILE336LYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_009901	Polymorphism	p.ILE506MET	N/A
Swiss-Prot	VAR_000218	Disease	p.ILE807MET	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000198	Disease	p.ILE601PHE	Cystic fibrosis (CF)
Swiss-Prot	VAR_000117	Disease	p.ILE105SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_000128	Disease	p.ILE148THR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000202	Disease	p.ILE618THR	Cystic fibrosis (CF)
Swiss-Prot	VAR_000254	Disease	p.ILE1234VAL	Cystic fibrosis (CF)
Swiss-Prot	VAR_000168	Polymorphism	p.ILE506VAL	N/A
Swiss-Prot	VAR_000169	Polymorphism	p.ILE507VAL	N/A
Swiss-Prot	VAR_000235	Disease	p.LEU1065ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000163	Polymorphism	p.LEU467PHE	N/A
Swiss-Prot	VAR_000227	Disease	p.LEU997PHE	Cystic fibrosis (CF)
Swiss-Prot	VAR_000234	Disease	p.LEU1065PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_000245	Disease	p.LEU1077PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_009895	Polymorphism	p.LEU138PRO	N/A
Swiss-Prot	VAR_000152	Disease	p.LEU346PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_000208	Disease	p.LEU633PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_000182	Disease	p.LEU558SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_000193	Disease	p.LEU571SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_000199	Disease	p.LEU610SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_000203	Disease	p.LEU619SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_009905	Polymorphism	p.LEU967SER	N/A
Swiss-Prot	VAR_000136	Disease	p.LEU206TRP	Cystic fibrosis (CF)
dbSNP	rs35032490	Polymorphism	p.LYS532GLU	N/A
Swiss-Prot	VAR_011565	Disease	p.MET1101ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000231	Disease	p.MET1028ILE	Cystic fibrosis (CF)
Swiss-Prot	VAR_000226	Disease	p.MET952ILE	Cystic fibrosis (CF)
Swiss-Prot	VAR_000248	Disease	p.MET1101LYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000138	Disease	p.MET244LYS	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000249	Disease	p.MET1137VAL	Cystic fibrosis (CF)
Swiss-Prot	VAR_000172	Polymorphism	p.PHE508CYS	N/A
Swiss-Prot	VAR_000144	Disease	p.PHE311LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000213	Polymorphism	p.PHE693LEU	N/A
Swiss-Prot	VAR_000113	Disease	p.PHE87LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000263	Disease	p.PHE1286SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_000232	Disease	p.PHE1052VAL	Cystic fibrosis (CF)
Swiss-Prot	VAR_000195	Disease	p.PRO574HIS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000230	Disease	p.PRO1013LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000244	Disease	p.PRO1072LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000120	Disease	p.PRO111LEU	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000109	Disease	p.PRO67LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000135	Disease	p.PRO205SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_000255	Disease	p.SER1235ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000178	Disease	p.SER549ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000258	Disease	p.SER1251ASN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000143	Disease	p.SER307ASN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000176	Disease	p.SER549ASN	Cystic fibrosis (CF)
Swiss-Prot	VAR_009897	Polymorphism	p.SER182GLY	N/A
Swiss-Prot	VAR_009902	Polymorphism	p.SER654GLY	N/A
Swiss-Prot	VAR_000177	Disease	p.SER549ILE	Cystic fibrosis (CF)
Swiss-Prot	VAR_009904	Polymorphism	p.SER909ILE	N/A
Swiss-Prot	VAR_000222	Polymorphism	p.SER912LEU	N/A
Swiss-Prot	VAR_000101	Disease	p.SER13PHE	Cystic fibrosis (CF)
Swiss-Prot	VAR_000104	Disease	p.SER42PHE	Cystic fibrosis (CF)
Swiss-Prot	VAR_000166	Disease	p.SER492PHE	Cystic fibrosis (CF)
dbSNP	rs766874	Polymorphism	p.SER605PHE	N/A
Swiss-Prot	VAR_000259	Disease	p.SER1255PRO	Cystic fibrosis (CF)
Swiss-Prot	VAR_000107	Disease	p.SER50TYR	Congenital bilateral absence of the vas deferens (CBAVD)
Swiss-Prot	VAR_000253	Polymorphism	p.THR1220ILE	N/A
Swiss-Prot	VAR_000151	Disease	p.THR338ILE	Cystic fibrosis (CF)
Swiss-Prot	VAR_009899	Polymorphism	p.THR351SER	N/A
Swiss-Prot	VAR_000211	Disease	p.THR665SER	Cystic fibrosis (CF)
Swiss-Prot	VAR_000247	Disease	p.TRP1098ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000261	Disease	p.TRP1282ARG	Cystic fibrosis (CF)
Swiss-Prot	VAR_000108	Disease	p.TRP57GLY	Cystic fibrosis (CF)
Swiss-Prot	VAR_000189	Disease	p.TYR563ASN	Cystic fibrosis (CF)
Swiss-Prot	VAR_000191	Disease	p.TYR569ASP	Cystic fibrosis (CF)
Swiss-Prot	VAR_000118	Disease	p.TYR109CYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000142	Disease	p.TYR301CYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000190	Disease	p.TYR569CYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000223	Disease	p.TYR913CYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000224	Disease	p.TYR917CYS	Cystic fibrosis (CF)
Swiss-Prot	VAR_000192	Disease	p.TYR569HIS	Cystic fibrosis (CF)
Swiss-Prot	VAR_009903	Polymorphism	p.TYR903HIS	N/A
Swiss-Prot	VAR_000270	Disease	p.VAL1397GLU	Cystic fibrosis (CF)
Swiss-Prot	VAR_000187	Polymorphism	p.VAL562ILE	N/A
Swiss-Prot	VAR_000188	Disease	p.VAL562LEU	Cystic fibrosis (CF)
Swiss-Prot	VAR_009898	Polymorphism	p.VAL322MET	N/A
dbSNP	rs213950	Polymorphism	p.VAL470MET	N/A
Swiss-Prot	VAR_000214	Disease	p.VAL754MET	Cystic fibrosis (CF)
Swiss-Prot	VAR_000161	Disease	p.VAL456PHE	Cystic fibrosis (CF)
Swiss-Prot	VAR_000174	Disease	p.VAL520PHE	Cystic fibrosis (CF)
OMIM	602421.0130	Disease	p.ALA445GLU	CYSTIC FIBROSIS
OMIM	602421.0007	Disease	p.ALA455GLU	CYSTIC FIBROSIS
OMIM	602421.0069	Disease	p.ALA534GLU	CYSTIC FIBROSIS
OMIM	602421.0136	Disease	p.ALA561GLU	CYSTIC FIBROSIS
OMIM	602421.0055	Disease	p.ALA1067THR	CYSTIC FIBROSIS
OMIM	602421.0015	Disease	p.ALA559THR	CYSTIC FIBROSIS
OMIM	602421.0068	Disease	p.ALA349VAL	CYSTIC FIBROSIS
OMIM	602421.0058	Disease	p.ARG1066CYS	CYSTIC FIBROSIS
OMIM	602421.0092	Disease	p.ARG352GLN	CYSTIC FIBROSIS
OMIM	602421.0121	Disease	p.ARG553GLN	CYSTIC FIBROSIS
OMIM	602421.0054	Disease	p.ARG1066HIS	CYSTIC FIBROSIS
OMIM	602421.0005	Disease	p.ARG117HIS	CYSTIC FIBROSIS\|\|VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF, INCLUDED
OMIM	602421.0078	Disease	p.ARG347HIS	CYSTIC FIBROSIS
OMIM	602421.0067	Disease	p.ARG347LEU	CYSTIC FIBROSIS
OMIM	602421.0052	Disease	p.ARG560LYS	CYSTIC FIBROSIS
OMIM	602421.0063	Disease	p.ARG1283MET	CYSTIC FIBROSIS
OMIM	602421.0006	Disease	p.ARG347PRO	CYSTIC FIBROSIS
OMIM	602421.0039	Disease	p.ARG1158TER	CYSTIC FIBROSIS
OMIM	602421.0033	Disease	p.ARG1162TER	CYSTIC FIBROSIS
OMIM	602421.0014	Disease	p.ARG553TER	CYSTIC FIBROSIS
OMIM	602421.0036	Disease	p.ARG851TER	CYSTIC FIBROSIS
OMIM	602421.0016	Disease	p.ARG560THR	CYSTIC FIBROSIS
OMIM	602421.0034	Disease	p.ARG334TRP	CYSTIC FIBROSIS
OMIM	602421.0114	Disease	p.ASN1303HIS	CYSTIC FIBROSIS
OMIM	602421.0032	Disease	p.ASN1303LYS	CYSTIC FIBROSIS
OMIM	602421.0060	Disease	p.ASP1270ASN	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
OMIM	602421.0004	Disease	p.ASP110HIS	CYSTIC FIBROSIS
OMIM	602421.0097	Disease	p.ASP648VAL	CYSTIC FIBROSIS
OMIM	602421.0047	Disease	p.CYS524TER	CYSTIC FIBROSIS
OMIM	602421.0048	Disease	p.GLN1291HIS	CYSTIC FIBROSIS
OMIM	602421.0133	Disease	p.GLN1352HIS	CYSTIC FIBROSIS
OMIM	602421.0094	Disease	p.GLN524HIS	CYSTIC FIBROSIS
OMIM	602421.0065	Disease	p.GLN359LYS	CYSTIC FIBROSIS
OMIM	602421.0104	Disease	p.GLN1071PRO	CYSTIC FIBROSIS
OMIM	602421.0072	Disease	p.GLN1238TER	CYSTIC FIBROSIS
OMIM	602421.0076	Disease	p.GLN1313TER	CYSTIC FIBROSIS
OMIM	602421.0003	Disease	p.GLN493TER	CYSTIC FIBROSIS
OMIM	602421.0096	Disease	p.GLN552TER	CYSTIC FIBROSIS
OMIM	602421.0099	Disease	p.GLN890TER	CYSTIC FIBROSIS
OMIM	602421.0134	Disease	p.GLU217GLY	CYSTIC FIBROSIS
OMIM	602421.0077	Disease	p.GLU92LYS	CYSTIC FIBROSIS
OMIM	602421.0131	Disease	p.GLU7TER	CYSTIC FIBROSIS
OMIM	602421.0053	Disease	p.GLU827TER	CYSTIC FIBROSIS
OMIM	602421.0082	Disease	p.GLU92TER	CYSTIC FIBROSIS
OMIM	602421.0061	Disease	p.GLY576ALA	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
OMIM	602421.0079	Disease	p.GLY91ARG	CYSTIC FIBROSIS
OMIM	602421.0013	Disease	p.GLY551ASP	CYSTIC FIBROSIS
OMIM	602421.0083	Disease	p.GLY480CYS	CYSTIC FIBROSIS
OMIM	602421.0111	Disease	p.GLY1249GLU	CYSTIC FIBROSIS
OMIM	602421.0038	Disease	p.GLY85GLU	CYSTIC FIBROSIS
OMIM	602421.0037	Disease	p.GLY551SER	CYSTIC FIBROSIS
OMIM	602421.0009 602421.0095	Disease	p.GLY542TER	CYSTIC FIBROSIS
OMIM	602421.0135	Disease	p.GLY1244VAL	CYSTIC FIBROSIS
OMIM	602421.0028	Disease	p.GLY458VAL	CYSTIC FIBROSIS
OMIM	602421.0105	Disease	p.HIS1085ARG	CYSTIC FIBROSIS
OMIM	602421.0129	Disease	p.HIS1282TER	CYSTIC FIBROSIS
OMIM	602421.0102	Disease	p.HIS949TYR	CYSTIC FIBROSIS
OMIM	602421.0110	Disease	p.ILE1234VAL	CYSTIC FIBROSIS
OMIM	602421.0090	Disease	p.ILE556VAL	CYSTIC FIBROSIS
OMIM	602421.0124	Disease	p.LEU997PHE	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO\|\|HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO, INCLUDED
OMIM	602421.0103	Disease	p.LEU1065PRO	CYSTIC FIBROSIS
OMIM	602421.0084	Disease	p.LEU206TRP	CYSTIC FIBROSIS
OMIM	602421.0098	Disease	p.LYS710TER	CYSTIC FIBROSIS
OMIM	602421.0070	Disease	p.LYS716TER	CYSTIC FIBROSIS
OMIM	602421.0137	Disease	p.MET1101LYS	CYSTIC FIBROSIS
OMIM	602421.0049	Disease	p.PHE311LEU	CYSTIC FIBROSIS
OMIM	602421.0080	Disease	p.PHE1286SER	CYSTIC FIBROSIS
OMIM	602421.0018	Disease	p.PRO574HIS	CYSTIC FIBROSIS
OMIM	602421.0012	Disease	p.SER549ARG	CYSTIC FIBROSIS
OMIM	602421.0112	Disease	p.SER1251ASN	CYSTIC FIBROSIS
OMIM	602421.0010	Disease	p.SER549ASN	CYSTIC FIBROSIS
OMIM	602421.0011	Disease	p.SER549ILE	CYSTIC FIBROSIS
OMIM	602421.0135	Disease	p.SER912LEU	CYSTIC FIBROSIS
OMIM	602421.0051	Disease	p.SER492PHE	CYSTIC FIBROSIS
OMIM	602421.0113	Disease	p.SER1255PRO	CYSTIC FIBROSIS
OMIM	602421.0021	Disease	p.SER1255TER	CYSTIC FIBROSIS
OMIM	602421.0119	Disease	p.SER1455TER	SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
OMIM	602421.0109	Disease	p.THR1220ILE	CYSTIC FIBROSIS
OMIM	602421.0087	Disease	p.THR338ILE	CYSTIC FIBROSIS
OMIM	602421.0065	Disease	p.THR360LYS	CYSTIC FIBROSIS
OMIM	602421.0088	Disease	p.TRP1089TER	CYSTIC FIBROSIS
OMIM	602421.0107	Disease	p.TRP1204TER	CYSTIC FIBROSIS
OMIM	602421.0022	Disease	p.TRP1282TER	CYSTIC FIBROSIS
OMIM	602421.0029	Disease	p.TRP1316TER	CYSTIC FIBROSIS
OMIM	602421.0075	Disease	p.TRP57TER	CYSTIC FIBROSIS
OMIM	602421.0026	Disease	p.TRP846TER	CYSTIC FIBROSIS
OMIM	602421.0017	Disease	p.TYR563ASN	CYSTIC FIBROSIS
OMIM	602421.0091	Disease	p.TYR109CYS	CYSTIC FIBROSIS
OMIM	602421.0027	Disease	p.TYR913CYS	CYSTIC FIBROSIS
OMIM	602421.0106	Disease	p.TYR1092TER	CYSTIC FIBROSIS
OMIM	602421.0046	Disease	p.VAL520PHE	CYSTIC FIBROSIS

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