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Results for the Protein: O75445
91207975

USH2A_HUMAN RecName: Full=Usherin; AltName: Full=Usher syndrome type IIa protein; AltName: Full=Usher syndrome type-2A protein; Flags: Precursor

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 39 (RP39)
  USHER SYNDROME 2A (USH2A)
48
57
0
0
105
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
Laminin_EGF - pfam00053
EGF_Lam - smart00180
fn3 - pfam00041
FN3 - smart00060
FN3 - cd00063
LamG - cd00110
LamG - smart00282
Laminin_G_1 - pfam00054
Laminin_G_2 - pfam02210


Swiss-Prot Protein: O75445
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_Lamcd000553.2e-13574639
EGF_Lamcd000554.3e-16640692
EGF_Lamcd000554.1e-13693745
EGF_Lamcd000553.5e-15746793
EGF_Lamcd000551.2e-16794845
EGF_Lamcd000551.3e-15846898
EGF_Lamcd000554.3e-17899949
EGF_Lamcd000554.8e-149501000
EGF_Lamcd000552.1e-1310011051
FN3cd000636.3e-1111481238
FN3cd000631.4e-1312431357
FN3cd000632.2e-0613621462
LamGcd001107.7e-2715191679
LamGcd001106.8e-2317161869
FN3cd000631.3e-0819542051
FN3cd000630.00122412324
FN3cd000633.7e-1224352528
FN3cd000639.9e-1425332619
FN3cd000631.1e-1026212719
FN3cd000633.2e-0927242816
FN3cd000634.2e-0728212920
FN3cd000634.7e-0929253015
FN3cd000630.0007835023586
FN3cd000633.8e-1035903676
FN3cd000633.3e-0536783767
FN3cd000630.0002537723862
FN3cd000633.4e-0938673963
FN3cd000637.6e-1339654064
FN3cd000634.9e-0841554258
FN3cd000631.8e-0842664351
FN3cd000639.3e-0843564439
FN3cd000632e-0544444529
FN3cd000632.7e-0945324627
FN3cd000632.3e-1146344730
FN3cd000639.4e-1348294927
Laminin_Npfam000552.4e-09284516
Laminin_EGFpfam000530.00038518572
Laminin_EGFpfam000530.00021575638
Laminin_EGFpfam000533.5e-14641691
Laminin_EGFpfam000531.8e-09694744
Laminin_EGFpfam000537.3e-14747792
Laminin_EGFpfam000533.7e-11795844
Laminin_EGFpfam000536.4e-12847897
Laminin_EGFpfam000531.1e-16900948
Laminin_EGFpfam000535e-09951999
Laminin_EGFpfam000532.9e-0810021050
fn3pfam000410.0001410581136
fn3pfam000412.3e-0811461230
fn3pfam000411.7e-0712431350
fn3pfam000410.0002913601455
Laminin_G_1pfam000543.8e-1315481683
Laminin_G_2pfam022102.5e-2815481681
Laminin_G_1pfam000541.5e-1317441874
Laminin_G_2pfam022105.9e-2417441871
fn3pfam000417.1e-0719562043
fn3pfam000411.7e-0624362521
fn3pfam000411.3e-1025342614
fn3pfam000411.7e-0527252804
fn3pfam000410.0001828222913
fn3pfam000414.6e-0529253006
fn3pfam000411.5e-1035913668
fn3pfam000411.5e-0537763856
fn3pfam000412.5e-1239694057
fn3pfam000410.0004941594254
fn3pfam000414.1e-0542674347
fn3pfam000412.6e-0543574432
fn3pfam000414.3e-0544484520
fn3pfam000413.1e-0746364723
fn3pfam000411.4e-0748274920
LamGLsmart005601.7e-50146283
LamNTsmart001366.8e-09274516
EGF_Lamsmart001800.00031518572
EGF_Lamsmart001802.4e-12575638
EGF_Lamsmart001802.2e-15641691
EGF_Lamsmart001804.1e-14694744
EGF_Lamsmart001804.7e-12747792
EGF_Lamsmart001801.6e-15795844
EGF_Lamsmart001803e-15847897
EGF_Lamsmart001803.8e-17900948
EGF_Lamsmart001802.6e-11951999
EGF_Lamsmart001802.9e-1110021050
FN3smart000601.3e-0711451229
FN3smart000602.2e-1112421348
FN3smart000605.1e-0913591453
LamGsmart002824.5e-2515401681
LamGsmart002824e-1717361871
FN3smart000604.2e-0619542041
FN3smart000602e-0522412315
FN3smart000600.0004723292421
FN3smart000604.6e-1324322519
FN3smart000601.1e-1025332609
FN3smart000607.6e-0926212709
FN3smart000601.4e-1027242801
FN3smart000607.8e-0728182911
FN3smart000603.2e-0629253007
FN3smart000602.3e-1035903667
FN3smart000604.8e-0536813758
FN3smart000609.5e-0838643951
FN3smart000604.4e-1239624052
FN3smart000608.7e-0741554249
FN3smart000602.2e-0642654342
FN3smart000603.6e-0743564430
FN3smart000602.9e-0744444519
FN3smart000601.5e-0945294618
FN3smart000602.5e-0846344721
FN3smart000602e-1148264918

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054588Diseasep.ALA2249ASPUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054593Diseasep.ALA2795SERUsher syndrome 2A (USH2A)
Swiss-ProtVAR_025760Polymorphismp.ALA125THRN/A
Swiss-ProtVAR_054560Diseasep.ARG303CYSUsher syndrome 2A (USH2A)
Swiss-ProtVAR_025780Diseasep.ARG4115CYSUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054568Polymorphismp.ARG464CYSN/A
Swiss-ProtVAR_038365Polymorphismp.ARG2875GLNN/A
Swiss-ProtVAR_054563Diseasep.ARG334GLNUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054597Polymorphismp.ARG3124GLYN/A
Swiss-ProtVAR_038369Diseasep.ARG4674GLYRetinitis pigmentosa 39 (RP39)
Swiss-ProtVAR_054590Polymorphismp.ARG2292HISN/A
Swiss-ProtVAR_054591Diseasep.ARG2354HISUsher syndrome 2A (USH2A)
Swiss-ProtVAR_068355Diseasep.ARG2460HISRetinitis pigmentosa 39 (RP39)
Swiss-ProtVAR_068358Diseasep.ARG4192HISRetinitis pigmentosa 39 (RP39)
Swiss-ProtVAR_025778Polymorphismp.ARG1486LYSN/A
Swiss-ProtVAR_050089Polymorphismp.ARG4739LYSN/A
Swiss-ProtVAR_054561Diseasep.ARG303SERUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054571Polymorphismp.ARG517THRN/A
Swiss-ProtVAR_025765Diseasep.ARG334TRPUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054620Polymorphismp.ARG5031TRPN/A
Swiss-ProtVAR_034064Polymorphismp.ASN3199ASPN/A
Swiss-ProtVAR_025766Diseasep.ASN346HISUsher syndrome 2A (USH2A)
Swiss-ProtVAR_038366Polymorphismp.ASN3099SERN/A
Swiss-ProtVAR_054565Diseasep.ASN357THRUsher syndrome 2A (USH2A)
Swiss-ProtVAR_038367Polymorphismp.ASP3144ASNN/A
Swiss-ProtVAR_025773Polymorphismp.ASP703GLUN/A
Swiss-ProtVAR_025772Polymorphismp.ASP644VALN/A
Swiss-ProtVAR_054598Diseasep.CYS3251ARGUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054599Diseasep.CYS3267ARGUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054600Diseasep.CYS3282ARGUsher syndrome 2A (USH2A)
Swiss-ProtVAR_025769Diseasep.CYS536ARGUsher syndrome 2A (USH2A)
Swiss-ProtVAR_025767Diseasep.CYS419PHEUsher syndrome 2A (USH2A)
Swiss-ProtVAR_025775Diseasep.CYS759PHEUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054572Polymorphismp.CYS575SERN/A
Swiss-ProtVAR_025761Diseasep.CYS163TYRUsher syndrome 2A (USH2A)
Swiss-ProtVAR_025764Diseasep.CYS319TYRUsher syndrome 2A (USH2A)
Swiss-ProtVAR_068356Diseasep.CYS3358TYRRetinitis pigmentosa 39 (RP39)
Swiss-ProtVAR_066665Polymorphismp.GLN4203ARGN/A
Swiss-ProtVAR_054616Diseasep.GLN4592HISUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054587Polymorphismp.GLU2238ALAN/A
Swiss-ProtVAR_050087Polymorphismp.GLU3411ALAN/A
Swiss-ProtVAR_025768Polymorphismp.GLU478ASPN/A
Swiss-ProtVAR_054559Diseasep.GLU284LYSUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054595Polymorphismp.GLU3088LYSN/A
Swiss-ProtVAR_054557Polymorphismp.GLY268ARGN/A
Swiss-ProtVAR_061351Polymorphismp.GLY4692ARGN/A
Swiss-ProtVAR_025774Polymorphismp.GLY713ARGN/A
Swiss-ProtVAR_054608Diseasep.GLY3895GLUUsher syndrome 2A (USH2A)
Swiss-ProtVAR_061352Polymorphismp.GLY4838GLUN/A
Swiss-ProtVAR_054570Polymorphismp.GLY516VALN/A
Swiss-ProtVAR_025771Diseasep.HIS610PROUsher syndrome 2A (USH2A)
Swiss-ProtVAR_038368Polymorphismp.ILE3335METN/A
Swiss-ProtVAR_038362Polymorphismp.ILE1665THRN/A
Swiss-ProtVAR_038363Polymorphismp.ILE2106THRN/A
Swiss-ProtVAR_038364Polymorphismp.ILE2169THRN/A
Swiss-ProtVAR_054581Polymorphismp.LEU1470ARGN/A
Swiss-ProtVAR_054618Diseasep.LEU4795ARGUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054582Polymorphismp.LEU1572PHEN/A
Swiss-ProtVAR_054558Diseasep.LEU280PHEUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054594Polymorphismp.LEU2886PHEN/A
Swiss-ProtVAR_054566Polymorphismp.LEU365PHEN/A
Swiss-ProtVAR_054577Polymorphismp.LEU1047VALN/A
Swiss-ProtVAR_025770Diseasep.LEU555VALUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054585Polymorphismp.LYS2080ASNN/A
Swiss-ProtVAR_054606Polymorphismp.MET3868VALN/A
Swiss-ProtVAR_068354Diseasep.PHE1859CYSRetinitis pigmentosa 39 (RP39)
Swiss-ProtVAR_054575Polymorphismp.PHE739LEUN/A
Swiss-ProtVAR_054569Polymorphismp.PHE479SERN/A
Swiss-ProtVAR_054574Polymorphismp.PHE595SERN/A
Swiss-ProtVAR_054617Polymorphismp.PHE4624VALN/A
Swiss-ProtVAR_054611Diseasep.PRO4232ARGUsher syndrome 2A (USH2A)
Swiss-ProtVAR_025776Diseasep.PRO761ARGUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054578Polymorphismp.PRO1059LEUN/A
Swiss-ProtVAR_054579Diseasep.PRO1212LEUUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054605Polymorphismp.PRO3590LEUN/A
Swiss-ProtVAR_054619Diseasep.PRO4818LEUUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054602Diseasep.PRO3504THRUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054607Polymorphismp.PRO3893THRN/A
Swiss-ProtVAR_068357Diseasep.SER3669ARGRetinitis pigmentosa 39 (RP39)
Swiss-ProtVAR_054562Polymorphismp.SER307ILEN/A
Swiss-ProtVAR_054567Polymorphismp.SER391ILEN/A
Swiss-ProtVAR_054610Diseasep.SER4054ILEUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054580Polymorphismp.SER1349PRON/A
Swiss-ProtVAR_025777Polymorphismp.SER841TYRN/A
Swiss-ProtVAR_054596Polymorphismp.THR3115ALAN/A
Swiss-ProtVAR_054586Polymorphismp.THR2086ASNN/A
Swiss-ProtVAR_054576Polymorphismp.THR911ASNN/A
Swiss-ProtVAR_054564Diseasep.THR352ILEUsher syndrome 2A (USH2A)
Swiss-ProtVAR_050088Polymorphismp.THR3835ILEN/A
Swiss-ProtVAR_054614Diseasep.THR4439ILEUsher syndrome 2A (USH2A)
Swiss-ProtVAR_064761Polymorphismp.THR453ILEN/A
Swiss-ProtVAR_025779Diseasep.THR1515METUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054604Diseasep.THR3571METUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054609Diseasep.THR3976METUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054612Diseasep.THR4337METUsher syndrome 2A (USH2A)
Swiss-ProtVAR_025781Polymorphismp.THR4425METN/A
Swiss-ProtVAR_054603Diseasep.TRP3521ARGUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054583Polymorphismp.TYR1757CYSN/A
Swiss-ProtVAR_054615Diseasep.TYR4487CYSUsher syndrome 2A (USH2A)
Swiss-ProtVAR_054592Polymorphismp.VAL2562ALAN/A
Swiss-ProtVAR_054584Diseasep.VAL1833GLUUsher syndrome 2A (USH2A)
Swiss-ProtVAR_025762Diseasep.VAL218GLUUsher syndrome 2A (USH2A)
Swiss-ProtVAR_061350Polymorphismp.VAL2820ILEN/A
Swiss-ProtVAR_054613Polymorphismp.VAL4433LEUN/A
Swiss-ProtVAR_025763Diseasep.VAL230METUsher syndrome 2A (USH2A)



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