Results for the protein: NP

Results for the Protein: NP_061978

188528648

7148

TNXB

NCBI

tenascin-X isoform 1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

1

25

1

25

0

Tips:

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Default View: EGF_2 - pfam07974 FN3 - cd00063 FN3 - smart00060 fn3 - pfam00041 FReD - cd00087 FBG - smart00186 Fibrinogen_C - pfam00147	RefSeq Protein: NP_061978 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FN3	cd00063	1.4e-14	840	926
FN3	cd00063	1.9e-14	1062	1150
FN3	cd00063	5.1e-15	1159	1245
FN3	cd00063	3.2e-13	1262	1348
FN3	cd00063	1.5e-12	1373	1459
FN3	cd00063	2.2e-14	1475	1561
FN3	cd00063	8.4e-15	1578	1663
FN3	cd00063	1.2e-12	1674	1759
FN3	cd00063	3.7e-12	1776	1863
FN3	cd00063	2.8e-09	1882	1967
FN3	cd00063	8.1e-14	1988	2073
FN3	cd00063	7.6e-14	2096	2182
FN3	cd00063	1.8e-10	2195	2281
FN3	cd00063	3.7e-12	2298	2390
FN3	cd00063	3.7e-14	2412	2498
FN3	cd00063	8e-13	2517	2609
FN3	cd00063	1e-12	2629	2715
FN3	cd00063	5.2e-12	2737	2823
FN3	cd00063	1.4e-13	2843	2929
FN3	cd00063	3.2e-13	2951	3037
FN3	cd00063	7.6e-13	3059	3144
FN3	cd00063	2e-14	3165	3251
FN3	cd00063	3.1e-09	3261	3346
FN3	cd00063	1.1e-14	3354	3440
FN3	cd00063	4e-13	3447	3534
FN3	cd00063	3.4e-12	3552	3640
FN3	cd00063	2.7e-07	3654	3749
FN3	cd00063	2.7e-18	3754	3841
FN3	cd00063	3.4e-12	3843	3929
FN3	cd00063	6.3e-13	3931	4017
FReD	cd00087	1.1e-120	4023	4233
fn3	pfam00041	3.2e-12	750	832
fn3	pfam00041	7.7e-15	841	920
fn3	pfam00041	2e-16	1062	1139
fn3	pfam00041	2e-10	1159	1240
fn3	pfam00041	4.1e-16	1261	1342
fn3	pfam00041	2.4e-10	1372	1453
fn3	pfam00041	3e-15	1475	1555
fn3	pfam00041	6.9e-15	1578	1655
fn3	pfam00041	1e-10	1674	1750
fn3	pfam00041	6.6e-09	1776	1857
fn3	pfam00041	5.8e-08	1882	1957
fn3	pfam00041	1.9e-15	1988	2068
fn3	pfam00041	3e-14	2095	2176
fn3	pfam00041	7.5e-15	2195	2275
fn3	pfam00041	1.4e-16	2304	2384
fn3	pfam00041	3e-14	2411	2492
fn3	pfam00041	4.3e-14	2522	2603
fn3	pfam00041	1e-16	2629	2709
fn3	pfam00041	2.4e-14	2736	2817
fn3	pfam00041	6e-17	2843	2923
fn3	pfam00041	8.1e-14	2950	3031
fn3	pfam00041	1.5e-15	3059	3139
fn3	pfam00041	4.7e-15	3164	3245
fn3	pfam00041	6.7e-09	3261	3337
fn3	pfam00041	2.8e-16	3353	3434
fn3	pfam00041	1.8e-12	3447	3528
fn3	pfam00041	2.5e-13	3555	3635
fn3	pfam00041	7.6e-11	3654	3740
fn3	pfam00041	1.2e-17	3755	3832
fn3	pfam00041	3.2e-09	3844	3924
fn3	pfam00041	3.4e-08	3932	4006
Fibrinogen_C	pfam00147	3.7e-140	4024	4233
EGF_2	pfam07974	1.7e-05	187	213
EGF_2	pfam07974	1.2e-06	218	244
EGF_2	pfam07974	0.00019	249	275
EGF_2	pfam07974	0.0001	280	306
EGF_2	pfam07974	0.00039	311	337
EGF_2	pfam07974	0.00035	342	368
EGF_2	pfam07974	0.00013	373	399
EGF_2	pfam07974	5.3e-06	404	430
EGF_2	pfam07974	3.7e-05	435	461
EGF_2	pfam07974	3e-05	466	492
EGF_2	pfam07974	3.8e-06	497	523
EGF_2	pfam07974	1.8e-05	528	554
EGF_2	pfam07974	1.3e-05	559	585
EGF_2	pfam07974	0.00059	590	616
EGF_2	pfam07974	7.9e-07	621	647
EGF_2	pfam07974	0.00084	719	745
FN3	smart00060	1.2e-06	749	829
FN3	smart00060	6.9e-11	840	917
FN3	smart00060	1.7e-11	1062	1140
FN3	smart00060	5.3e-11	1156	1237
FN3	smart00060	8.2e-08	1260	1339
FN3	smart00060	1.6e-07	1371	1450
FN3	smart00060	3.7e-09	1473	1550
FN3	smart00060	3.3e-10	1576	1655
FN3	smart00060	1.4e-10	1671	1751
FN3	smart00060	2.5e-08	1773	1854
FN3	smart00060	3.5e-07	1880	1959
FN3	smart00060	1.2e-08	1985	2063
FN3	smart00060	2.3e-08	2094	2173
FN3	smart00060	7.8e-07	2191	2272
FN3	smart00060	7.2e-09	2301	2381
FN3	smart00060	2.3e-08	2410	2489
FN3	smart00060	6.2e-08	2521	2600
FN3	smart00060	4.5e-08	2626	2706
FN3	smart00060	4.9e-08	2735	2814
FN3	smart00060	3.3e-09	2840	2920
FN3	smart00060	7.2e-08	2949	3028
FN3	smart00060	1.7e-08	3056	3136
FN3	smart00060	1.1e-08	3163	3242
FN3	smart00060	0.00055	3258	3338
FN3	smart00060	2.3e-12	3352	3431
FN3	smart00060	1.2e-09	3447	3525
FN3	smart00060	6.3e-08	3552	3632
FN3	smart00060	1.8e-06	3653	3742
FN3	smart00060	1.1e-12	3754	3832
FN3	smart00060	1.3e-05	3843	3921
FN3	smart00060	6.9e-08	3931	4008
FBG	smart00186	4.5e-127	4024	4233

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9267799	Polymorphism	p.ARG1414GLN	N/A
dbSNP	rs2066982	Polymorphism	p.ARG2597GLN	N/A
dbSNP	rs41270450	Polymorphism	p.ARG3209GLY	N/A
dbSNP	rs12211410	Polymorphism	p.ARG1255HIS	N/A
dbSNP	rs10947230	Polymorphism	p.ARG2704HIS	N/A
dbSNP	rs204896	Polymorphism	p.ARG511HIS	N/A
dbSNP	rs17201602	Polymorphism	p.ARG650HIS	N/A
dbSNP	rs76250508	Polymorphism	p.ASN4055ILE	N/A
dbSNP	rs78493656	Polymorphism	p.GLU1629LYS	N/A
dbSNP	rs17207923	Polymorphism	p.GLU1905LYS	N/A
dbSNP	rs61745355	Polymorphism	p.GLY2846ARG	N/A
dbSNP	rs2269429	Polymorphism	p.GLY2495SER	N/A
dbSNP	rs1009382	Polymorphism	p.GLY2518VAL	N/A
dbSNP	rs185819	Polymorphism	p.HIS1161ARG	N/A
dbSNP	rs17207895	Polymorphism	p.LYS3015ARG	N/A
dbSNP	rs3749960	Polymorphism	p.PHE2228TYR	N/A
dbSNP	rs440160	Polymorphism	p.PRO2731ARG	N/A
dbSNP	rs2269428	Polymorphism	p.PRO2301HIS	N/A
dbSNP	rs12524664	Polymorphism	p.PRO2412LEU	N/A
dbSNP	rs204900	Polymorphism	p.SER921ALA	N/A
dbSNP	rs142041833	Polymorphism	p.SER3573PRO	N/A
dbSNP	rs1150752	Polymorphism	p.THR302ALA	N/A
dbSNP	rs41258944	Polymorphism	p.VAL3186ILE	N/A
dbSNP	rs41270461	Polymorphism	p.VAL203MET	N/A
dbSNP	rs9469081	Polymorphism	p.VAL2127MET	N/A
OMIM	600985.0004	Disease	p.VAL1195MET	EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

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