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Results for the Protein: P78363
6707663
24

ABCA4_HUMAN RecName: Full=Retinal-specific ATP-binding cassette transporter; AltName: Full=ATP-binding cassette sub-family A member 4; AltName: Full=RIM ABC transporter; Short=RIM protein; Short=RmP; AltName: Full=Stargardt disease protein

Known Diseases associated with this Protein:
  CONE-ROD DYSTROPHY 3
  CONE-ROD DYSTROPHY 3 (CORD3)
  CONE-ROD DYSTROPHY 3, INCLUDED
  FUNDUS FLAVIMACULATUS
  FUNDUS FLAVIMACULATUS (FFM)
  MACULAR DEGENERATION, AGE-RELATED, 2 (ARMD2)
  MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
  MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO, INCLUDED
  RETINAL DYSTROPHY, EARLY-ONSET SEVERE
  STARGARDT DISEASE
  STARGARDT DISEASE 1
  STARGARDT DISEASE 1 (STGD1)
  STARGARDT DISEASE 1, INCLUDED
  STARGARDT DISEASE 1, INCLUDED;;
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26
7
219
Tips:
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Default View:

SunT - COG2274
MdlB - COG1132
PvdE - COG4615
CydC - COG4987
ATM1 - COG5265
CydD - COG4988
COG4586 - COG4586
ModF - COG1119
ABCC_CFTR1 - cd03291
TagH - COG1134
Ttg2A - COG1127
ABCG_White - cd03234
COG4181 - COG4181
HisP - COG4598
COG1123 - COG1123
SapF - COG4167
CbiO - COG1122
Uup - COG0488
PotA - COG3842
MalK - COG3839
DppF - COG1124
TauB - COG1116
COG4619 - COG4619
TauB - COG4525
PhnK - COG4107
MglA - COG1129
COG3638 - COG3638
COG3845 - COG3845
CysA - COG1118
FepC - COG1120
ZnuC - COG1121
COG4152 - COG4152
ProV - COG4175
LivG - COG0411
PstB - COG1117
AppF - COG4608
GlnQ - COG1126
CcmA - COG4133
YhbG - COG1137
ABCG_EPDR - cd03213
ABCC_MRP_domain2 - cd03244
SalX - COG1136
FtsE - COG2884
COG4559 - COG4559
CcmA - COG1131
ArtP - COG4161
ABC_MetN_methionine_ - cd03258
ABC_NikE_OppD_transp - cd03257
ABC_CysA_sulfate_imp - cd03296
OpuBA - COG1125
AbcC - COG1135
ABC_MalK_N - cd03301
ABCC_MRP_domain1 - cd03250
ABCC_NFT1 - cd03369
ABC_PotA_N - cd03300
NatA - COG4555
COG4136 - COG4136
ABC_OpuCA_Osmoprotec - cd03295
CeuD - COG4604
PhnK - COG1101
ABC_NatA_like - cd03267
ABCC_ATM1_transporte - cd03253
ABCC_Hemolysin - cd03252
ABCC_cytochrome_bd - cd03247
ABCC_Protease_Secret - cd03246
ABC_MJ0796_LolCDE_Ft - cd03255
ABC_PhnC_transporter - cd03256
ABC_Org_Solvent_Resi - cd03261
ABC_Carb_Solutes_lik - cd03259
ABCC_MsbA - cd03251
ABCD_peroxisomal_ALD - cd03223
ABC_CcmA_heme_export - cd03231
ABC_KpsT_Wzt - cd03220
ABC_YhbG - cd03218
ABC_FeS_Assembly - cd03217
ABC_Carb_Monos_I - cd03216
ABC_Mj1267_LivG_bran - cd03219
ABCF_EF-3 - cd03221
ABC_DR_subfamily_A - cd03230
ABC_Class3 - cd03229
ABCC_MRP_Like - cd03228
ABC_subfamily_A - cd03263
ABC_DrrA - cd03265
ABCC_SUR1_N - cd03290
ABC_drug_resistance_ - cd03264
ABC_putative_ATPase - cd03269
ABC_Pro_Gly_Betaine - cd03294
ABC_NrtD_SsuB_transp - cd03293
ABC_FtsE_transporter - cd03292
ABC_NatA_sodium_expo - cd03266
ABC_PstB_phosphate_t - cd03260
ABC_BcrA_bacitracin_ - cd03268
ABC_HisP_GlnQ - cd03262
ABC_Iron-Siderophore - cd03214
ABC_ATPase - cd00267
ABC_cobalt_CbiO_doma - cd03225
sufC - COG0396
ABC_cobalt_CbiO_doma - cd03226
ABC_Metallic_Cations - cd03235
DppD - COG0444
ABCC_TAP - cd03248
ABCC_bacteriocin_exp - cd03245
ABC_Carb_Monos_II - cd03215
ThiQ - COG3840
ABC_ThiQ_thiamine_tr - cd03298
ABC_ModC_molybdenum_ - cd03297
ModC - COG4148
ABC_RNaseL_inhibitor - cd03222
ABC_Class2 - cd03227
COG4674 - COG4674
ABC_MTABC3_MDL1_MDL2 - cd03249
LivF - COG0410
ABC_TM1139_LivF_bran - cd03224
ABCC_Glucan_exporter - cd03254
ABCG_PDR_domain1 - cd03233
BtuD - COG4138
ABC_ModC_like - cd03299
AAA - smart00382
ABC_tran - pfam00005
PhnL - COG4778
ABC_RNaseL_inhibitor - cd03236
ABCG_PDR_domain2 - cd03232


Swiss-Prot Protein: P78363
Identical to: NP_000341
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ModFCOG11194.9e-148871144
ABCC_CFTR1cd032910.000548891174
TagHCOG11341.2e-099121162
ABCG_Whitecd032341.5e-139191142
Ttg2ACOG11271.8e-159191170
COG1123COG11231.2e-099241330
UupCOG04880.000759261297
TauBCOG11167.2e-169261171
DppFCOG11244.3e-119261170
CbiOCOG11225.8e-429261156
MglACOG11294.3e-089261332
ABCG_EPDRcd032132.8e-189271142
ABCC_MRP_domain2cd032441.6e-129271144
LivGCOG04112.8e-209271143
PstBCOG11173.6e-099271152
CysACOG11185.5e-119271250
FepCCOG11203e-299271169
ZnuCCOG11211.8e-179271171
GlnQCOG11262.3e-159271161
YhbGCOG11372e-159271159
ABC_MetN_methionine_cd032583.5e-169281150
ABC_NikE_OppD_transpcd032573.3e-169281142
ABC_CysA_sulfate_impcd032961.9e-199281153
OpuBACOG11255e-149281212
CcmACOG11312.4e-839281264
SalXCOG11365.7e-229281146
AbcCCOG11355.7e-119281227
ABC_Carb_Monos_Icd032163.7e-269291141
ABC_FeS_Assemblycd032175.4e-109291156
ABC_YhbGcd032186.3e-159291158
ABC_KpsT_Wztcd032201.1e-129291142
ABC_Mj1267_LivG_brancd032199.4e-239291144
ABCF_EF-3cd032211.3e-099291137
ABCC_MRP_Likecd032285.9e-399291137
ABC_Class3cd032296e-439291137
ABC_DR_subfamily_Acd032302.4e-879291138
ABC_CcmA_heme_exportcd032312.8e-089291141
ABCD_peroxisomal_ALDcd032233.9e-059291139
ABCC_Protease_Secretcd032464.6e-119291138
ABCC_cytochrome_bdcd032474.4e-139291142
ABCC_Hemolysincd032522.9e-079291163
ABCC_ATM1_transportecd032538.8e-109291167
ABC_MJ0796_LolCDE_Ftcd032555.4e-289291138
ABC_PhnC_transportercd032562.2e-159291156
ABCC_MsbAcd032515.3e-099291139
ABC_Carb_Solutes_likcd032598.9e-329291142
ABC_Org_Solvent_Resicd032613.4e-189291151
ABC_subfamily_Acd032636.4e-1299291148
ABC_DrrAcd032653e-489291148
ABC_NatA_sodium_expocd032661.6e-329291142
ABC_NatA_likecd032672.4e-119291142
ABC_BcrA_bacitracin_cd032684.6e-319291142
ABC_PstB_phosphate_tcd032601.8e-189291147
ABC_HisP_GlnQcd032628.3e-179291138
ABC_putative_ATPasecd032696e-299291142
ABC_drug_resistance_cd032642.3e-409291142
ABCC_SUR1_Ncd032900.000339291137
ABC_FtsE_transportercd032925.5e-169291138
ABC_NrtD_SsuB_transpcd032936.5e-229291146
ABC_Pro_Gly_Betainecd032941.4e-179291155
ABC_OpuCA_Osmoproteccd032952.5e-159291157
ABCC_MRP_domain1cd032502e-099291137
ABC_PotA_Ncd033001.4e-159291152
ABC_MalK_Ncd033011.3e-139291142
ABCC_NFT1cd033691.5e-059291144
PhnKCOG11012.1e-099291164
ABC_ATPasecd002679.2e-669301137
ABC_Iron-Siderophorecd032141.1e-379301142
ABC_cobalt_CbiO_domacd032254.4e-489301137
ABC_cobalt_CbiO_domacd032267.1e-189301139
ABC_Metallic_Cationscd032352.6e-209301142
sufCCOG03963.6e-109301162
ABCC_bacteriocin_expcd032453.9e-129311142
ABCC_TAPcd032481.3e-059311138
DppDCOG04449.7e-099311218
ABC_Carb_Monos_IIcd032158.4e-159321138
ABC_ModC_molybdenum_cd032975e-119331142
ABC_ThiQ_thiamine_trcd032983.5e-139331142
ABC_RNaseL_inhibitorcd032220.000129361155
ABC_Class2cd032278.6e-059371140
ABC_TM1139_LivF_brancd032249.9e-219421149
ABCC_Glucan_exportercd032547e-129421150
ABC_MTABC3_MDL1_MDL2cd032494.6e-089421163
LivFCOG04102.3e-169421153
ABCG_PDR_domain1cd032333e-089431142
ABC_ModC_likecd032992.4e-129461150
ModFCOG11196.9e-1319092154
ABC_Carb_Monos_IIcd032152.1e-1319342148
ZnuCCOG11218.9e-1219342178
CcmACOG11315.3e-8119342251
ABCG_Whitecd032341.6e-0919352152
CbiOCOG11228.9e-1519352181
FepCCOG11207.7e-1319362183
ABC_NikE_OppD_transpcd032578.5e-1419372152
ABC_NatA_sodium_expocd032662.1e-3219372152
ABC_Carb_Monos_Icd032162.4e-1719382153
ABC_Mj1267_LivG_brancd032191.4e-1719382159
ABCC_MRP_Likecd032285.2e-1319382147
ABC_Class3cd032293.6e-1419382147
ABC_DR_subfamily_Acd032302.1e-7319382148
ABC_RNaseL_inhibitorcd032365.6e-0519382209
ABC_MJ0796_LolCDE_Ftcd032558.9e-1519382148
ABC_Carb_Solutes_likcd032593.3e-1519382152
ABC_subfamily_Acd032638.3e-13719382158
ABC_DrrAcd032652e-6019382158
ABC_BcrA_bacitracin_cd032684.7e-2819382152
ABC_putative_ATPasecd032691.9e-1819382152
ABC_drug_resistance_cd032645.8e-2719382152
ABC_CysA_sulfate_impcd032961.1e-0719382168
ABC_MalK_Ncd033019e-1119382152
ABC_ATPasecd002671.9e-5519392147
ABC_Iron-Siderophorecd032144.5e-1719392152
ABC_cobalt_CbiO_domacd032251.1e-2919392147
ABC_cobalt_CbiO_domacd032267.6e-1119392149
ABC_Metallic_Cationscd032351.3e-1219392152
ABCG_PDR_domain2cd032322.7e-0819552146
SunTCOG22740.000184951161
PvdECOG46150.000326451149
CydCCOG49877.4e-056801163
ATM1COG52652.2e-056821162
CydDCOG49888.5e-106911171
COG4586COG45861.1e-108861229
COG4181COG41813.2e-089211142
HisPCOG45981.3e-089241167
SapFCOG41671.2e-059251164
COG3638COG36385.2e-139261170
PotACOG38424e-129261288
MalKCOG38397.8e-169261249
PhnKCOG41079e-059261165
TauBCOG45251.4e-109261168
COG4619COG46192.8e-089261149
COG3845COG38452.9e-079271288
CcmACOG41332.7e-129271141
COG4152COG41521.1e-149271207
ProVCOG41754.4e-099271237
AppFCOG46087e-109271205
FtsECOG28841.3e-129281146
ArtPCOG41611.4e-089281161
COG4559COG45596.7e-089281170
COG4136COG41362.1e-079291136
NatACOG45556.4e-379291178
CeuDCOG46047.5e-089291143
ThiQCOG38401.2e-109331164
ModCCOG41480.000449351234
COG4674COG46744.2e-119381162
BtuDCOG41382.6e-069441170
ABC_tranpfam000058.1e-369701090
PhnKCOG41070.0001519312173
PhnLCOG47786.5e-0819342153
CcmACOG41336.6e-1119362148
COG4152COG41529.3e-1519362254
NatACOG45551.4e-3019372177
ArtPCOG41612e-0819382171
ABC_tranpfam000055.3e-1819792099
AAAsmart003822.1e-199551145
AAAsmart003827.2e-0919642148

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012581Diseasep.ALA1598ASPCone-rod dystrophy 3 (CORD3)
Swiss-ProtVAR_008466Diseasep.ALA1794ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012496Diseasep.ALA60GLUStargardt disease 1 (STGD1)
Swiss-ProtVAR_067427Diseasep.ALA762GLUMacular degeneration, age-related, 2 (ARMD2)
Swiss-ProtVAR_012520Diseasep.ALA549PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012582Polymorphismp.ALA1637THRN/A
Swiss-ProtVAR_008405Diseasep.ALA192THRStargardt disease 1 (STGD1)
Swiss-ProtVAR_012497Diseasep.ALA60THRStargardt disease 1 (STGD1)
Swiss-ProtVAR_012539Diseasep.ALA854THRStargardt disease 1 (STGD1)
Swiss-ProtVAR_008433Diseasep.ALA1038VALStargardt disease 1 (STGD1)
Swiss-ProtVAR_012614Polymorphismp.ALA2216VALN/A
Swiss-ProtVAR_008411Diseasep.ALA407VALStargardt disease 1 (STGD1)
Swiss-ProtVAR_008492Diseasep.ALA60VALStargardt disease 1 (STGD1)
Swiss-ProtVAR_012561Diseasep.ARG1097CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012562Diseasep.ARG1108CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012565Diseasep.ARG1129CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_008484Diseasep.ARG2106CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012610Diseasep.ARG2107CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_008406Diseasep.ARG212CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012508Diseasep.ARG220CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012519Diseasep.ARG537CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012529Diseasep.ARG653CYSStargardt disease 1 (STGD1)
dbSNPrs61750129 Polymorphismp.ARG1300GLNN/A
Swiss-ProtVAR_012569Diseasep.ARG1300GLNStargardt disease 1 (STGD1)
Swiss-ProtVAR_012503Polymorphismp.ARG152GLNN/A
Swiss-ProtVAR_012583Diseasep.ARG1640GLNStargardt disease 1 (STGD1)
Swiss-ProtVAR_008480Diseasep.ARG2030GLNStargardt disease 1 (STGD1)
Swiss-ProtVAR_008417Diseasep.ARG572GLNStargardt disease 1 (STGD1)
Swiss-ProtVAR_012523Diseasep.ARG602GLNStargardt disease 1 (STGD1)
Swiss-ProtVAR_008428Polymorphismp.ARG943GLNN/A
Swiss-ProtVAR_012609Diseasep.ARG2077GLYStargardt disease 1 (STGD1)
Swiss-ProtVAR_012563Diseasep.ARG1108HISStargardt disease 1 (STGD1)
Swiss-ProtVAR_012574Diseasep.ARG1443HISStargardt disease 1 (STGD1)
Swiss-ProtVAR_008473Diseasep.ARG1898HISStargardt disease 1 (STGD1)
Swiss-ProtVAR_008485Diseasep.ARG2107HISStargardt disease 1 (STGD1)
dbSNPrs6657239 Polymorphismp.ARG212HISN/A
Swiss-ProtVAR_008399Diseasep.ARG24HISStargardt disease 1 (STGD1)
Swiss-ProtVAR_012564Diseasep.ARG1108LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008439Diseasep.ARG1129LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_012587Diseasep.ARG1705LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_012612Diseasep.ARG2149LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_012617Diseasep.ARG2263LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008467Diseasep.ARG1820PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_008416Diseasep.ARG572PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_008455Diseasep.ARG1517SERMacular degeneration, age-related, 2 (ARMD2)
Swiss-ProtVAR_012557Diseasep.ARG1055TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008461Diseasep.ARG1640TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008398Diseasep.ARG18TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008469Diseasep.ARG1843TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008495Diseasep.ARG2038TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008482Diseasep.ARG2077TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008488Diseasep.ARG2139TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012514Diseasep.ARG333TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008418Diseasep.ARG602TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012545Diseasep.ARG943TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012595Diseasep.ASN1799ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012596Diseasep.ASN1805ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008403Diseasep.ASN96ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008404Diseasep.ASN96HISStargardt disease 1 (STGD1)
dbSNPrs1801466 Polymorphismp.ASN1868ILEN/A
Swiss-ProtVAR_012516Diseasep.ASN380LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012495Diseasep.ASN58LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012511Diseasep.ASN247SERStargardt disease 1 (STGD1)
Swiss-ProtVAR_008430Diseasep.ASN965SERStargardt disease 1 (STGD1)
Swiss-ProtVAR_008441Diseasep.ASP1204ASNStargardt disease 1 (STGD1)
Swiss-ProtVAR_008457Diseasep.ASP1532ASNStargardt disease 1 (STGD1)
Swiss-ProtVAR_008491Polymorphismp.ASP2177ASNN/A
Swiss-ProtVAR_008421Diseasep.ASP645ASNStargardt disease 1 (STGD1)
Swiss-ProtVAR_008414Diseasep.ASP523GLUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008407Diseasep.ASP249GLYStargardt disease 1 (STGD1)
Swiss-ProtVAR_008493Polymorphismp.ASP846HISN/A
Swiss-ProtVAR_008453Diseasep.CYS1488ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012613Diseasep.CYS2150ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_008402Diseasep.CYS75GLYStargardt disease 1 (STGD1)
Swiss-ProtVAR_012575Diseasep.CYS1488PHEStargardt disease 1 (STGD1)
Swiss-ProtVAR_012509Diseasep.CYS230SERStargardt disease 1 (STGD1)
Swiss-ProtVAR_012576Diseasep.CYS1488TYRStargardt disease 1 (STGD1)
Swiss-ProtVAR_008454Diseasep.CYS1490TYRStargardt disease 1 (STGD1)
Swiss-ProtVAR_067430Diseasep.CYS2137TYRMacular degeneration, age-related, 2 (ARMD2)
Swiss-ProtVAR_008489Diseasep.CYS2150TYRStargardt disease 1 (STGD1)
Swiss-ProtVAR_008400Diseasep.CYS54TYRStargardt disease 1 (STGD1)
Swiss-ProtVAR_012532Diseasep.CYS764TYRStargardt disease 1 (STGD1)
Swiss-ProtVAR_012578Diseasep.GLN1513ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_008429Diseasep.GLN957ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012505Diseasep.GLN190HISStargardt disease 1 (STGD1)
Swiss-ProtVAR_012527Diseasep.GLN636HISStargardt disease 1 (STGD1)
Swiss-ProtVAR_008464Diseasep.GLN1703LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012526Diseasep.GLN635LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012559Diseasep.GLU1087ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012597Polymorphismp.GLU1817ASPN/A
Swiss-ProtVAR_012555Diseasep.GLU1022LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_008432Diseasep.GLU1036LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_008436Diseasep.GLU1087LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_008438Diseasep.GLU1122LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012571Diseasep.GLU1399LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012599Diseasep.GLU1885LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_008483Diseasep.GLU2096LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_008487Diseasep.GLU2131LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_008413Diseasep.GLU471LYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012513Diseasep.GLU328VALStargardt disease 1 (STGD1)
Swiss-ProtVAR_012606Polymorphismp.GLY2059ALAN/A
Swiss-ProtVAR_008425Diseasep.GLY863ALAStargardt disease 1 (STGD1)
Swiss-ProtVAR_008459Diseasep.GLY1578ARGMacular degeneration, age-related, 2 (ARMD2)
Swiss-ProtVAR_012590Diseasep.GLY1748ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012604Diseasep.GLY1975ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012521Diseasep.GLY550ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012524Diseasep.GLY607ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012500Diseasep.GLY72ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012551Diseasep.GLY991ARGFundus flavimaculatus (FFM)
Swiss-ProtVAR_008450Diseasep.GLY1439ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012611Diseasep.GLY2146ASPCone-rod dystrophy 3 (CORD3)
Swiss-ProtVAR_008424Diseasep.GLY851ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012577Diseasep.GLY1508CYSFundus flavimaculatus (FFM)
Swiss-ProtVAR_008431Diseasep.GLY978CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_012560Diseasep.GLY1091GLUFundus flavimaculatus (FFM)
Swiss-ProtVAR_008471Diseasep.GLY1886GLUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008475Diseasep.GLY1961GLUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008401Diseasep.GLY65GLUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008422Diseasep.GLY818GLUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008477Diseasep.GLY1977SERStargardt disease 1 (STGD1)
Swiss-ProtVAR_012525Diseasep.GLY607TRPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008486Diseasep.HIS2128ARGStargardt disease 1 (STGD1)
dbSNPrs3112831 Polymorphismp.HIS423ARGN/A
Swiss-ProtVAR_012543Polymorphismp.HIS914ARGN/A
Swiss-ProtVAR_008444Diseasep.HIS1406TYRStargardt disease 1 (STGD1)
Swiss-ProtVAR_008468Diseasep.HIS1838TYRStargardt disease 1 (STGD1)
Swiss-ProtVAR_067429Diseasep.ILE2047ASNMacular degeneration, age-related, 2 (ARMD2)
Swiss-ProtVAR_008458Diseasep.ILE1562THRStargardt disease 1 (STGD1)
Swiss-ProtVAR_008494Polymorphismp.ILE1846THRN/A
Swiss-ProtVAR_012537Diseasep.ILE824THRStargardt disease 1 (STGD1)
Swiss-ProtVAR_012504Diseasep.ILE156VALStargardt disease 1 (STGD1)
Swiss-ProtVAR_012552Diseasep.LEU1014ARGStargardt disease 1 (STGD1)
dbSNPrs61750126 Polymorphismp.LEU1201ARGN/A
Swiss-ProtVAR_008440Diseasep.LEU1201ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012603Diseasep.LEU1971ARGFundus flavimaculatus (FFM)
Swiss-ProtVAR_012607Diseasep.LEU2060ARGCone-rod dystrophy 3 (CORD3)
Swiss-ProtVAR_008476Diseasep.LEU1970PHEMacular degeneration, age-related, 2 (ARMD2)
Swiss-ProtVAR_008478Diseasep.LEU2027PHEStargardt disease 1 (STGD1)
Swiss-ProtVAR_012493Diseasep.LEU11PROFundus flavimaculatus (FFM)
Swiss-ProtVAR_012567Diseasep.LEU1250PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012570Diseasep.LEU1388PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012572Diseasep.LEU1430PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012579Diseasep.LEU1525PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_008460Diseasep.LEU1631PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_008465Diseasep.LEU1729PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012592Diseasep.LEU1763PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012602Diseasep.LEU1940PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012605Diseasep.LEU2035PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012615Diseasep.LEU2229PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012510Diseasep.LEU244PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_008415Diseasep.LEU541PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012536Diseasep.LEU797PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012530Diseasep.LEU686SERStargardt disease 1 (STGD1)
Swiss-ProtVAR_012616Diseasep.LEU2241VALStargardt disease 1 (STGD1)
Swiss-ProtVAR_008490Diseasep.LYS2160ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012556Diseasep.LYS1031GLUStargardt disease 1 (STGD1)
Swiss-ProtVAR_012566Polymorphismp.LYS1148THRN/A
Swiss-ProtVAR_012588Diseasep.MET1733THRStargardt disease 1 (STGD1)
Swiss-ProtVAR_012518Diseasep.PHE525CYSStargardt disease 1 (STGD1)
Swiss-ProtVAR_008419Diseasep.PHE608ILEStargardt disease 1 (STGD1)
Swiss-ProtVAR_012541Diseasep.PHE873LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008451Diseasep.PHE1440SERStargardt disease 1 (STGD1)
Swiss-ProtVAR_012573Diseasep.PHE1440VALStargardt disease 1 (STGD1)
Swiss-ProtVAR_012594Diseasep.PRO1780ALAStargardt disease 1 (STGD1)
Swiss-ProtVAR_012512Diseasep.PRO309ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012499Diseasep.PRO68ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_008443Diseasep.PRO1380LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008452Diseasep.PRO1486LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_012593Diseasep.PRO1776LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008474Polymorphismp.PRO1948LEUN/A
Swiss-ProtVAR_012498Diseasep.PRO68LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008442Polymorphismp.PRO1314THRN/A
Swiss-ProtVAR_012506Diseasep.SER206ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_008412Diseasep.SER445ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_012533Diseasep.SER765ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_008463Diseasep.SER1696ASNStargardt disease 1 (STGD1)
Swiss-ProtVAR_012534Diseasep.SER765ASNStargardt disease 1 (STGD1)
Swiss-ProtVAR_008409Diseasep.SER336CYSStargardt disease 1 (STGD1)
dbSNPrs6666652 Polymorphismp.SER2255ILEN/A
Swiss-ProtVAR_014703Polymorphismp.SER752ILEN/A
Swiss-ProtVAR_008434Diseasep.SER1071LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_012502Diseasep.SER100PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012558Diseasep.SER1063PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012585Diseasep.SER1689PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012589Diseasep.SER1736PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012549Diseasep.SER974PROStargardt disease 1 (STGD1)
Swiss-ProtVAR_012553Diseasep.THR1019ALAStargardt disease 1 (STGD1)
Swiss-ProtVAR_008426Polymorphismp.THR901ALAN/A
Swiss-ProtVAR_008437Diseasep.THR1112ASNStargardt disease 1 (STGD1)
Swiss-ProtVAR_008408Diseasep.THR300ASNStargardt disease 1 (STGD1)
Swiss-ProtVAR_012547Diseasep.THR971ASNStargardt disease 1 (STGD1)
Swiss-ProtVAR_012548Diseasep.THR972ASNStargardt disease 1 (STGD1)
Swiss-ProtVAR_012542Diseasep.THR897ILEStargardt disease 1 (STGD1)
Swiss-ProtVAR_012546Diseasep.THR959ILEStargardt disease 1 (STGD1)
Swiss-ProtVAR_012554Diseasep.THR1019METStargardt disease 1 (STGD1)
Swiss-ProtVAR_012568Diseasep.THR1253METFundus flavimaculatus (FFM)
dbSNPrs1800549 Diseasep.THR1428METMacular degeneration, age-related, 2 (ARMD2)
Swiss-ProtVAR_008456Diseasep.THR1526METStargardt disease 1 (STGD1)
Swiss-ProtVAR_012580Diseasep.THR1537METStargardt disease 1 (STGD1)
Swiss-ProtVAR_035736Polymorphismp.THR224METN/A
Swiss-ProtVAR_012531Diseasep.THR716METStargardt disease 1 (STGD1)
Swiss-ProtVAR_008446Diseasep.TRP1408ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_008423Diseasep.TRP821ARGStargardt disease 1 (STGD1)
Swiss-ProtVAR_067428Diseasep.TRP1724CYSMacular degeneration, age-related, 2 (ARMD2)
Swiss-ProtVAR_012515Diseasep.TRP339GLYFundus flavimaculatus (FFM)
Swiss-ProtVAR_008445Diseasep.TRP1408LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008462Diseasep.TYR1652ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_008410Diseasep.TYR340ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012608Diseasep.TYR2071PHEStargardt disease 1 (STGD1)
Swiss-ProtVAR_008435Diseasep.VAL1072ALAStargardt disease 1 (STGD1)
Swiss-ProtVAR_008448Diseasep.VAL1429ALAStargardt disease 1 (STGD1)
Swiss-ProtVAR_012538Diseasep.VAL849ALAStargardt disease 1 (STGD1)
Swiss-ProtVAR_012544Diseasep.VAL935ALAStargardt disease 1 (STGD1)
Swiss-ProtVAR_012550Diseasep.VAL989ALAStargardt disease 1 (STGD1)
Swiss-ProtVAR_012600Diseasep.VAL1896ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012535Diseasep.VAL767ASPStargardt disease 1 (STGD1)
Swiss-ProtVAR_012598Diseasep.VAL1884GLUStargardt disease 1 (STGD1)
Swiss-ProtVAR_012501Diseasep.VAL77GLUStargardt disease 1 (STGD1)
Swiss-ProtVAR_008420Polymorphismp.VAL643GLYN/A
Swiss-ProtVAR_008449Diseasep.VAL1433ILEStargardt disease 1 (STGD1)
Swiss-ProtVAR_012586Diseasep.VAL1693ILEStargardt disease 1 (STGD1)
Swiss-ProtVAR_012522Polymorphismp.VAL552ILEN/A
Swiss-ProtVAR_008481Diseasep.VAL2050LEUStargardt disease 1 (STGD1)
Swiss-ProtVAR_012601Polymorphismp.VAL1921METN/A
Swiss-ProtVAR_012528Diseasep.VAL643METStargardt disease 1 (STGD1)
Swiss-ProtVAR_008427Diseasep.VAL931METStargardt disease 1 (STGD1)
OMIM601691.0031 Diseasep.ALA1762ASPCONE-ROD DYSTROPHY 3||STARGARDT DISEASE 1, INCLUDED
OMIM601691.0003 Diseasep.ALA1028VALSTARGARDT DISEASE 1
OMIM601691.0016 601691.0023 Diseasep.ALA1038VALSTARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3, INCLUDED
OMIM601691.0020 Diseasep.ARG212CYSSTARGARDT DISEASE 1
OMIM601691.0022 Diseasep.ARG572GLNSTARGARDT DISEASE 1
OMIM601691.0035 Diseasep.ARG943GLNMACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1
OMIM601691.0029 Diseasep.ARG2030TERRETINAL DYSTROPHY, EARLY-ONSET SEVERE
OMIM601691.0021 Diseasep.ARG18TRPSTARGARDT DISEASE 1
OMIM601691.0006 Diseasep.ASP2177ASNMACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
OMIM601691.0012 Diseasep.GLU1036LYSSTARGARDT DISEASE 1
OMIM601691.0037 Diseasep.GLU1122LYSSTARGARDT DISEASE 1
OMIM601691.0001 Diseasep.GLY863ALASTARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3, INCLUDED
OMIM601691.0007 Diseasep.GLY1961GLUMACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1, INCLUDED;;||CONE-ROD DYSTROPHY 3, INCLUDED
OMIM601691.0025 Diseasep.LEU1201ARGCONE-ROD DYSTROPHY 3
OMIM601691.0015 Diseasep.LEU1971ARGFUNDUS FLAVIMACULATUS
OMIM601691.0014 Diseasep.LEU1970PHEFUNDUS FLAVIMACULATUS
OMIM601691.0004 Diseasep.LEU2027PHESTARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3, INCLUDED
OMIM601691.0033 Diseasep.LEU1940PROFUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1, INCLUDED;;||CONE-ROD DYSTROPHY 3, INCLUDED
OMIM601691.0023 Diseasep.LEU541PROSTARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3, INCLUDED
OMIM601691.0034 Diseasep.PRO1780ALASTARGARDT DISEASE 1
OMIM601691.0026 Diseasep.PRO1380LEUSTARGARDT DISEASE||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO, INCLUDED
OMIM601691.0036 Diseasep.TRP821ARGSTARGARDT DISEASE 1
OMIM601691.0011 Diseasep.TRP855TERSTARGARDT DISEASE 1
OMIM601691.0018 Diseasep.TYR340ASPSTARGARDT DISEASE 1
OMIM601691.0005 Diseasep.VAL2050LEUSTARGARDT DISEASE 1
OMIM601691.0002 Diseasep.VAL931METSTARGARDT DISEASE 1



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