Results for the protein: NP

Results for the Protein: NP_009054

219842259

7399

USH2A

NCBI

usherin isoform A [Homo sapiens]

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 39
  RETINITIS PIGMENTOSA 39, INCLUDED
  USHER SYNDROME, TYPE IIA

5

4

5

4

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: LamGL - smart00560 LamNT - smart00136 Laminin_N - pfam00055 EGF_Lam - cd00055 EGF_Lam - smart00180 Laminin_EGF - pfam00053 fn3 - pfam00041 FN3 - smart00060 FN3 - cd00063	RefSeq Protein: NP_009054 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF_Lam	cd00055	3.2e-13	574	639
EGF_Lam	cd00055	4.3e-16	640	692
EGF_Lam	cd00055	4.1e-13	693	745
EGF_Lam	cd00055	3.5e-15	746	793
EGF_Lam	cd00055	1.2e-16	794	845
EGF_Lam	cd00055	1.3e-15	846	898
EGF_Lam	cd00055	4.3e-17	899	949
EGF_Lam	cd00055	4.8e-14	950	1000
EGF_Lam	cd00055	2.1e-13	1001	1051
FN3	cd00063	6.3e-11	1148	1238
FN3	cd00063	1.4e-13	1243	1357
FN3	cd00063	2.2e-06	1362	1462
Laminin_N	pfam00055	2.4e-09	284	516
Laminin_EGF	pfam00053	0.00038	518	572
Laminin_EGF	pfam00053	0.00021	575	638
Laminin_EGF	pfam00053	3.5e-14	641	691
Laminin_EGF	pfam00053	1.8e-09	694	744
Laminin_EGF	pfam00053	7.3e-14	747	792
Laminin_EGF	pfam00053	3.7e-11	795	844
Laminin_EGF	pfam00053	6.4e-12	847	897
Laminin_EGF	pfam00053	1.1e-16	900	948
Laminin_EGF	pfam00053	5e-09	951	999
Laminin_EGF	pfam00053	2.9e-08	1002	1050
fn3	pfam00041	0.00014	1058	1136
fn3	pfam00041	2.3e-08	1146	1230
fn3	pfam00041	1.7e-07	1243	1350
fn3	pfam00041	0.00029	1360	1455
LamGL	smart00560	1.7e-50	146	283
LamNT	smart00136	6.8e-09	274	516
EGF_Lam	smart00180	0.00031	518	572
EGF_Lam	smart00180	2.4e-12	575	638
EGF_Lam	smart00180	2.2e-15	641	691
EGF_Lam	smart00180	4.1e-14	694	744
EGF_Lam	smart00180	4.7e-12	747	792
EGF_Lam	smart00180	1.6e-15	795	844
EGF_Lam	smart00180	3e-15	847	897
EGF_Lam	smart00180	3.8e-17	900	948
EGF_Lam	smart00180	2.6e-11	951	999
EGF_Lam	smart00180	2.9e-11	1002	1050
FN3	smart00060	1.3e-07	1145	1229
FN3	smart00060	2.2e-11	1242	1348
FN3	smart00060	5.1e-09	1359	1453

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs10779261	Polymorphism	p.ALA125THR	N/A
dbSNP	rs1805049	Polymorphism	p.ARG1486LYS	N/A
dbSNP	rs1805048	Polymorphism	p.ASP644VAL	N/A
dbSNP	rs696723	Polymorphism	p.GLY713ARG	N/A
OMIM	608400.0011	Disease	p.ARG737TER	USHER SYNDROME, TYPE IIA\|\|RETINITIS PIGMENTOSA 39, INCLUDED
OMIM	608400.0009	Disease	p.CYS419PHE	USHER SYNDROME, TYPE IIA
OMIM	608400.0006	Disease	p.CYS759PHE	RETINITIS PIGMENTOSA 39
OMIM	608400.0005	Disease	p.CYS319TYR	USHER SYNDROME, TYPE IIA
OMIM	608400.0004	Disease	p.LEU260TER	USHER SYNDROME, TYPE IIA

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