Results for the protein: P16144

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FN3	cd00063	9.4e-16	1220	1318
FN3	cd00063	2.3e-22	1528	1618
FN3	cd00063	2.6e-20	1641	1734
Integrin_beta	pfam00362	1.6e-207	37	455
Calx-beta	pfam03160	2.4e-32	989	1084
fn3	pfam00041	1.9e-19	1128	1208
fn3	pfam00041	1.6e-16	1221	1310
fn3	pfam00041	1.8e-25	1529	1612
fn3	pfam00041	1.1e-23	1642	1728
PSI	smart00423	6e-05	30	73
INB	smart00187	4.4e-242	37	454
EGF_2	pfam07974	0.00019	543	573
Integrin_B_tail	pfam07965	6.4e-28	626	711
Calx_beta	smart00237	1.5e-33	991	1084
FN3	smart00060	1.1e-11	1127	1205
FN3	smart00060	2.1e-13	1220	1307
FN3	smart00060	8.6e-19	1528	1609
FN3	smart00060	4.6e-17	1641	1725

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_004009	Disease	p.ARG252CYS	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_011295	Disease	p.ARG283CYS	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_011301	Disease	p.ARG1225HIS	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_011292	Polymorphism	p.ARG98HIS	N/A
Swiss-Prot	VAR_011298	Polymorphism	p.ARG844LEU	N/A
Swiss-Prot	VAR_004011	Disease	p.ARG1281TRP	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_011293	Disease	p.ASP131TYR	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_010652	Disease	p.CYS38ARG	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_004010	Disease	p.CYS562ARG	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_004008	Disease	p.CYS245GLY	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_004006	Disease	p.CYS61TYR	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_027803	Polymorphism	p.GLN478HIS	N/A
Swiss-Prot	VAR_011294	Disease	p.GLY273ASP	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_011299	Disease	p.GLY931ASP	Generalized atrophic benign epidermolysis bullosa (GABEB)
Swiss-Prot	VAR_011300	Polymorphism	p.HIS1216GLN	N/A
Swiss-Prot	VAR_004007	Disease	p.LEU156PRO	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_027804	Polymorphism	p.LEU1779PRO	N/A
Swiss-Prot	VAR_011297	Disease	p.LEU336PRO	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-Prot	VAR_055971	Polymorphism	p.THR1764SER	N/A
Swiss-Prot	VAR_011296	Disease	p.VAL325ASP	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)
OMIM	147557.0015	Disease	p.ARG1225HIS	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM	147557.0004	Disease	p.ARG554TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM	147557.0014	Disease	p.ARG1281TRP	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM	147557.0009	Disease	p.CYS38ARG	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM	147557.0006	Disease	p.CYS562ARG	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM	147557.0005	Disease	p.CYS61TYR	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM	147557.0012	Disease	p.GLY931ASP	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
OMIM	147557.0003	Disease	p.LEU156PRO	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM	147557.0008	Disease	p.TRP1478TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA

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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