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Results for the Protein: Q5T1H1
338817908
EYS

EYS_HUMAN RecName: Full=Protein eyes shut homolog; AltName: Full=Epidermal growth factor-like protein 10; Short=EGF-like protein 10; AltName: Full=Epidermal growth factor-like protein 11; Short=EGF-like protein 11; AltName: Full=Protein spacemaker homolog; Flags: Precursor

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 25 (RP25)
18
41
0
0
59
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

EGF - pfam00008
EGF_CA - cd00054
EGF_CA - smart00179
EGF - smart00181
EGF - cd00053
LamG - cd00110
LamG - smart00282
Laminin_G_2 - pfam02210
Laminin_G_1 - pfam00054


Swiss-Prot Protein: Q5T1H1
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGFcd000537.1e-05216254
EGFcd000536.7e-05259292
EGF_CAcd000545e-15681720
EGFcd000532.7e-10684720
EGF_CAcd000541.1e-08733769
EGFcd000532.1e-07736769
EGF_CAcd000547.2e-12771807
EGFcd000532.4e-10774807
EGF_CAcd000541.2e-08809847
EGFcd000538.2e-08812847
EGFcd000538.7e-06852888
EGF_CAcd000544.8e-08890926
EGFcd000533.8e-07893926
EGF_CAcd000543.6e-11928964
EGFcd000538.3e-09931964
EGF_CAcd000544.4e-079661002
EGFcd000532.7e-059691002
EGF_CAcd000542.8e-1210041040
EGFcd000539.1e-1110071040
EGF_CAcd000549.4e-0910791115
EGFcd000536.3e-0810821115
EGF_CAcd000545.1e-0711171159
EGFcd000532.4e-0811201159
EGF_CAcd000541.5e-1411611197
EGFcd000535.2e-1211641197
LamGcd001101.1e-1218862044
EGFcd000538e-0621022140
LamGcd001106e-1421472315
EGFcd000531.1e-0523382371
EGFcd000531.9e-0523742408
LamGcd001101.8e-1224152583
EGFcd000532e-0526132646
EGF_CAcd000544.9e-0526482689
EGFcd000535.6e-0726512689
LamGcd001102.9e-2527172875
EGFcd000530.0002228992932
EGFcd000531.3e-0629362970
LamGcd001101e-1329773139
EGFpfam000080.00014174210
EGFpfam000080.00013217252
EGFpfam000081.6e-05685715
EGFpfam000086.9e-06775805
EGFpfam000081e-05813845
EGFpfam000085.5e-07932962
EGFpfam000084.1e-0810081038
EGFpfam000081.5e-0710831113
EGFpfam000082.2e-0711651195
Laminin_G_2pfam022101.1e-1219112046
EGFpfam000088.1e-0621032138
Laminin_G_1pfam000540.0006321792320
Laminin_G_2pfam022107.2e-1121792317
EGFpfam000080.0007723392369
EGFpfam000089.3e-0523752406
Laminin_G_2pfam022102.6e-1624482585
Laminin_G_1pfam000541.9e-1024552588
EGFpfam000084.2e-0526142644
EGFpfam000080.000426522687
Laminin_G_1pfam000542.6e-1827452880
Laminin_G_2pfam022107.3e-2527452877
Laminin_G_1pfam000546.7e-0530073144
Laminin_G_2pfam022101e-2130073141
EGF_CAsmart001792.6e-05213254
EGFsmart001810.00013216254
EGF_CAsmart001795.7e-16681720
EGFsmart001817.1e-10684720
EGF_CAsmart001796.6e-10733769
EGFsmart001818.3e-06736769
EGF_CAsmart001797.8e-11771807
EGFsmart001817.8e-09774807
EGF_CAsmart001791.6e-06809847
EGFsmart001812.8e-07812847
EGFsmart001810.00081852888
EGF_CAsmart001792e-06890926
EGFsmart001811.6e-05893926
EGF_CAsmart001792e-10928964
EGFsmart001812.5e-07931964
EGF_CAsmart001790.000259661002
EGFsmart001810.000429691002
EGF_CAsmart001799.6e-1210041040
EGFsmart001812.9e-0910071040
EGF_CAsmart001790.0008110421077
EGF_CAsmart001791.2e-0510791115
EGFsmart001812.5e-0710821115
EGF_CAsmart001790.0002411171159
EGFsmart001812e-0511201159
EGF_CAsmart001795.3e-1511611197
EGFsmart001812.5e-1011641197
LamGsmart002821.2e-1019032046
EGFsmart001815.3e-0521022140
LamGsmart002823.3e-1221712317
EGFsmart001815.9e-0523382371
EGFsmart001810.0005923742408
LamGsmart002821.4e-1324422585
EGFsmart001810.0001126132646
EGFsmart001813.5e-0626512689
LamGsmart002826.3e-2527372877
EGFsmart001812.4e-0529362970
LamGsmart002825.3e-0929993141

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063485Polymorphismp.ALA2757PRON/A
Swiss-ProtVAR_063486Diseasep.ALA2829THRRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063482Polymorphismp.ARG2326GLNN/A
Swiss-ProtVAR_063443Polymorphismp.ARG551LEUN/A
Swiss-ProtVAR_063461Polymorphismp.ARG1515TRPN/A
Swiss-ProtVAR_063472Polymorphismp.ASN1902ILEN/A
Swiss-ProtVAR_063452Polymorphismp.ASN1163LYSN/A
Swiss-ProtVAR_063479Polymorphismp.ASN2151SERN/A
Swiss-ProtVAR_063448Diseasep.ASN745SERRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063465Diseasep.ASP1682TYRRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063463Polymorphismp.ASP1662VALN/A
Swiss-ProtVAR_063453Diseasep.CYS1176ARGRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063478Diseasep.CYS2139TYRRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063488Diseasep.CYS2911TYRRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063444Polymorphismp.GLN571ARGN/A
Swiss-ProtVAR_063456Polymorphismp.GLN1325GLUN/A
Swiss-ProtVAR_064420Diseasep.GLN2945GLURetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063467Diseasep.GLU1747GLYRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_064419Diseasep.GLU2503LYSRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063447Polymorphismp.GLU641VALN/A
Swiss-ProtVAR_063489Diseasep.GLY2928GLURetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063445Diseasep.GLY618SERRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063446Polymorphismp.GLY631SERN/A
Swiss-ProtVAR_064418Diseasep.GLY2017VALRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063484Polymorphismp.HIS2599ARGN/A
Swiss-ProtVAR_063454Diseasep.ILE1232PHERetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063460Polymorphismp.ILE1451THRN/A
Swiss-ProtVAR_063455Polymorphismp.ILE1263VALN/A
Swiss-ProtVAR_063457Polymorphismp.ILE1361VALN/A
Swiss-ProtVAR_063476Polymorphismp.ILE1999VALN/A
Swiss-ProtVAR_063470Diseasep.LEU1869METRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063468Polymorphismp.LEU1748PHEN/A
Swiss-ProtVAR_063480Diseasep.LEU2189PRORetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_043561Polymorphismp.LEU852PRON/A
Swiss-ProtVAR_063459Polymorphismp.LEU1419SERN/A
Swiss-ProtVAR_063471Polymorphismp.LEU1873VALN/A
Swiss-ProtVAR_063450Polymorphismp.LYS938ARGN/A
Swiss-ProtVAR_063442Polymorphismp.LYS532ASNN/A
Swiss-ProtVAR_063458Polymorphismp.LYS1365GLUN/A
Swiss-ProtVAR_063437Polymorphismp.PRO94GLNN/A
Swiss-ProtVAR_063466Polymorphismp.PRO1739LEUN/A
Swiss-ProtVAR_063441Polymorphismp.SER326ASNN/A
Swiss-ProtVAR_063483Polymorphismp.SER2556CYSN/A
Swiss-ProtVAR_063462Polymorphismp.SER1517GLYN/A
Swiss-ProtVAR_063473Polymorphismp.SER1915GLYN/A
Swiss-ProtVAR_063481Diseasep.SER2211LEURetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063475Polymorphismp.THR1993ALAN/A
Swiss-ProtVAR_063464Polymorphismp.THR1664ILEN/A
Swiss-ProtVAR_063487Polymorphismp.THR2831ILEN/A
Swiss-ProtVAR_063439Polymorphismp.THR135LEUN/A
Swiss-ProtVAR_035301Polymorphismp.THR120METN/A
Swiss-ProtVAR_063474Polymorphismp.THR1987PRON/A
Swiss-ProtVAR_063451Diseasep.THR1110SERRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_064417Diseasep.TRP1484ARGRetinitis pigmentosa 25 (RP25)
Swiss-ProtVAR_063469Polymorphismp.TRP1837SERN/A
Swiss-ProtVAR_063477Polymorphismp.VAL2040ASPN/A
Swiss-ProtVAR_063438Polymorphismp.VAL112ILEN/A
Swiss-ProtVAR_063449Polymorphismp.VAL834ILEN/A
Swiss-ProtVAR_063440Polymorphismp.VAL136PHEN/A



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