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Results for the Protein: P98161
292495072

PKD1_HUMAN RecName: Full=Polycystin-1; AltName: Full=Autosomal dominant polycystic kidney disease 1 protein; Flags: Precursor

Known Diseases associated with this Protein:
  POLYCYSTIC KIDNEY DISEASE 1 (PKD1)
97
73
0
0
170
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

LRRNT - smart00013
LRRNT - pfam01462
LRR_TYP - smart00369
LRR - smart00370
LRRCT - smart00082
LRRCT - pfam01463
WSC - smart00321
WSC - pfam01822
PKD - smart00089
PKD - cd00146
PKD - pfam00801
CLECT_NK_receptors_l - cd03593
CLECT - smart00034
CLECT_DC-SIGN_like - cd03590
CLECT_CEL-1_like - cd03589
CLECT_REG-1_like - cd03594
CLECT_EMBP_like - cd03598
CLECT_selectins_like - cd03592
CLECT - cd00037
Lectin_C - pfam00059
REJ - pfam02010
GPS - pfam01825
GPS - smart00303
LH2 - smart00308
PLAT - cd00113
PLAT_repeat - cd01756
PLAT_polycystin - cd01752
PLAT - pfam01477
PLAT_plant_stress - cd01754
PKD_channel - pfam08016


Swiss-Prot Protein: P98161
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CLECT_CEL-1_likecd035890.00044406532
CLECT_DC-SIGN_likecd035901.4e-07406532
CLECT_NK_receptors_lcd035933e-05406532
CLECT_REG-1_likecd035945.4e-07406532
CLECT_EMBP_likecd035980.00011417532
CLECTcd000375.9e-19418532
CLECT_selectins_likecd035920.00027418532
PKDcd001461.2e-079351013
PKDcd001461.7e-2410221122
PKDcd001461.6e-2111291208
PKDcd001467.2e-1412151293
PKDcd001461.3e-1212971376
PKDcd001462.3e-1313831462
PKDcd001462e-1614681544
PKDcd001461.9e-1415511628
PKDcd001466.1e-0516351715
PKDcd001466.4e-1317221798
PKDcd001464.3e-0918011883
PKDcd001461.4e-0718861967
PKDcd001461.2e-1720632143
PLATcd001131.6e-1231183233
PLAT_polycystincd017522.3e-7231183237
PLAT_repeatcd017562.4e-2831183237
PLAT_plant_stresscd017548.6e-0531203227
LRRNTpfam014623.3e-063266
LRRCTpfam014630.00073152177
WSCpfam018221.7e-07180261
PKDpfam008011.5e-10277346
Lectin_Cpfam000594e-06425532
PKDpfam008015.7e-06855922
PKDpfam008014.1e-129371007
PKDpfam008012e-2710241116
PKDpfam008013.7e-2111311202
PKDpfam008011.1e-1112171285
PKDpfam008013.6e-1113011370
PKDpfam008016.2e-1613851456
PKDpfam008012.2e-1714731538
PKDpfam008011.1e-1815531622
PKDpfam008011.9e-1716371708
PKDpfam008014.4e-1617231792
PKDpfam008011.8e-1518071877
PKDpfam008013.9e-1618921961
PKDpfam008015.5e-1019762051
PKDpfam008014.7e-2020662135
REJpfam020101.4e-17221712614
GPSpfam018254.5e-0830113055
PLATpfam014771.8e-2731183233
LRRNTsmart000133.1e-083271
LRR_TYPsmart003697.5e-0590113
LRRsmart003707.5e-0590113
LRRCTsmart000824e-19125177
WSCsmart003215.5e-35177271
PKDsmart000898.7e-09272353
CLECTsmart000348.7e-23406531
PKDsmart000896.2e-059341012
PKDsmart000892.1e-3210211123
PKDsmart000893.8e-2111281209
PKDsmart000898.1e-1312161294
PKDsmart000892.5e-1612961377
PKDsmart000892e-1713801463
PKDsmart000894.3e-1914681545
PKDsmart000898.3e-1815501629
PKDsmart000895.3e-1216341715
PKDsmart000891.1e-1317191799
PKDsmart000892.5e-1618021884
PKDsmart000893.3e-1218881968
PKDsmart000892.9e-1019722058
PKDsmart000897.7e-2320592142
GPSsmart003031.4e-1330113060
LH2smart003082.1e-1831183222
PKD_channelpfam080166.3e-18637114113

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011049Diseasep.ALA2752ASPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058813Polymorphismp.ALA3954PRON/A
Swiss-ProtVAR_064382Diseasep.ALA442PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058777Polymorphismp.ALA1516THRN/A
Swiss-ProtVAR_058782Polymorphismp.ALA1871THRN/A
Swiss-ProtVAR_058783Polymorphismp.ALA1926VALN/A
Swiss-ProtVAR_011066Polymorphismp.ALA3512VALN/A
Swiss-ProtVAR_010095Polymorphismp.ALA4059VALN/A
Swiss-ProtVAR_012452Polymorphismp.ALA88VALN/A
Swiss-ProtVAR_058789Diseasep.ARG2200CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011042Diseasep.ARG2408CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011051Polymorphismp.ARG2765CYSN/A
Swiss-ProtVAR_068028Diseasep.ARG2767CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_012468Diseasep.ARG3039CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_068031Diseasep.ARG4150CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010097Diseasep.ARG4154CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_056701Polymorphismp.ARG2515GLNN/A
Swiss-ProtVAR_005537Polymorphismp.ARG2791GLNN/A
Swiss-ProtVAR_058807Polymorphismp.ARG3435GLNN/A
Swiss-ProtVAR_011067Diseasep.ARG3719GLNPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_064393Diseasep.ARG3750GLNPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058771Polymorphismp.ARG739GLNN/A
Swiss-ProtVAR_011058Polymorphismp.ARG2888GLYN/A
Swiss-ProtVAR_012467Diseasep.ARG2985GLYPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010096Diseasep.ARG4136GLYPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011036Polymorphismp.ARG1995HISN/A
Swiss-ProtVAR_013838Diseasep.ARG3247HISPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010085Diseasep.ARG324LEUPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_056699Polymorphismp.ARG1557PRON/A
Swiss-ProtVAR_012454Diseasep.ARG2392PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_014918Polymorphismp.ARG2746PRON/A
Swiss-ProtVAR_058795Polymorphismp.ARG2761PRON/A
Swiss-ProtVAR_058776Diseasep.ARG1340TRPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011039Polymorphismp.ARG2329TRPN/A
Swiss-ProtVAR_064386Diseasep.ARG2434TRPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011068Diseasep.ARG3753TRPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010100Diseasep.ARG4276TRPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_068025Diseasep.ARG611TRPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011044Polymorphismp.ASP2604ASNN/A
Swiss-ProtVAR_012465Polymorphismp.ASP2972ASNN/A
Swiss-ProtVAR_011069Diseasep.ASP3815ASNPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_064380Diseasep.ASP97GLYPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058791Diseasep.CYS2370ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_064381Diseasep.CYS436ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058766Diseasep.CYS508ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058764Diseasep.CYS210GLYPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058792Diseasep.CYS2373TYRPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058763Diseasep.GLN164ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010090Diseasep.GLN3016ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058812Diseasep.GLN3751ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_056703Polymorphismp.GLN3005GLUN/A
Swiss-ProtVAR_058772Diseasep.GLN987HISPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_012457Polymorphismp.GLN2519LEUN/A
Swiss-ProtVAR_011048Polymorphismp.GLN2735LEUN/A
Swiss-ProtVAR_010099Diseasep.GLN4225PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011061Polymorphismp.GLU2966ASPN/A
Swiss-ProtVAR_005542Diseasep.GLU3632ASPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_012458Polymorphismp.GLU2548GLNN/A
Swiss-ProtVAR_058781Diseasep.GLU1811LYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011053Diseasep.GLU2771LYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011055Polymorphismp.GLY2814ARGN/A
Swiss-ProtVAR_012471Diseasep.GLY3560ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058785Polymorphismp.GLY1952ASPN/A
Swiss-ProtVAR_064385Diseasep.GLY2391ASPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058796Diseasep.GLY2785ASPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_005545Diseasep.GLY4032ASPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058765Diseasep.GLY381CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058814Polymorphismp.GLY4102GLUN/A
Swiss-ProtVAR_011033Diseasep.GLY1166SERPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011057Diseasep.GLY2858SERPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058808Diseasep.GLY3602SERPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_068030Diseasep.GLY3651SERPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011064Polymorphismp.GLY3139VALN/A
Swiss-ProtVAR_012462Diseasep.HIS2638ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_012470Polymorphismp.HIS3311ARGN/A
Swiss-ProtVAR_011060Diseasep.HIS2921PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_064387Diseasep.HIS2546TYRPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058804Diseasep.ILE3167PHEPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_064389Diseasep.ILE2646THRPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_005538Diseasep.ILE2826THRPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_005546Polymorphismp.ILE4045VALN/A
Swiss-ProtVAR_056698Polymorphismp.LEU1114ARGN/A
Swiss-ProtVAR_012464Diseasep.LEU2696ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_068029Diseasep.LEU2995ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_064384Diseasep.LEU727ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011030Diseasep.LEU13GLNPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058761Polymorphismp.LEU87METN/A
Swiss-ProtVAR_011056Diseasep.LEU2816PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010089Diseasep.LEU2993PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_064391Diseasep.LEU3154PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058810Diseasep.LEU3682PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011070Diseasep.LEU3852PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058815Polymorphismp.LEU4106PRON/A
Swiss-ProtVAR_064383Diseasep.LEU727PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_056696Polymorphismp.LEU950PRON/A
Swiss-ProtVAR_010086Diseasep.LEU845SERPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_005535Diseasep.LEU2763VALPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010092Polymorphismp.LEU3511VALN/A
Swiss-ProtVAR_056697Diseasep.MET1092THRPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_005533Polymorphismp.MET2760THRN/A
Swiss-ProtVAR_005536Polymorphismp.MET2764THRN/A
Swiss-ProtVAR_005543Diseasep.MET3678THRPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_056704Polymorphismp.MET3023VALN/A
Swiss-ProtVAR_011063Diseasep.PHE3066LEUPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058768Diseasep.PHE594TYRPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058818Diseasep.PHE4155VALPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058770Polymorphismp.PRO738ARGN/A
Swiss-ProtVAR_058759Polymorphismp.PRO36HISN/A
Swiss-ProtVAR_010088Polymorphismp.PRO1786LEUN/A
Swiss-ProtVAR_012456Diseasep.PRO2471LEUPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058797Diseasep.PRO2802LEUPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011065Polymorphismp.PRO3193LEUN/A
Swiss-ProtVAR_058806Diseasep.PRO3355LEUPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058809Diseasep.PRO3649LEUPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058760Polymorphismp.PRO61LEUN/A
Swiss-ProtVAR_058773Polymorphismp.PRO1168SERN/A
Swiss-ProtVAR_011045Polymorphismp.PRO2674SERN/A
Swiss-ProtVAR_058816Polymorphismp.PRO4124SERN/A
Swiss-ProtVAR_058819Diseasep.PRO4255SERPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058767Polymorphismp.PRO572SERN/A
Swiss-ProtVAR_011047Polymorphismp.PRO2734THRN/A
Swiss-ProtVAR_064390Diseasep.SER2889ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010093Polymorphismp.SER3562ASNN/A
Swiss-ProtVAR_064388Diseasep.SER2569CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_056702Polymorphismp.SER2534GLYN/A
Swiss-ProtVAR_058762Polymorphismp.SER99ILEN/A
Swiss-ProtVAR_058780Polymorphismp.SER1684LEUN/A
Swiss-ProtVAR_058798Polymorphismp.SER2958LEUN/A
Swiss-ProtVAR_012455Diseasep.SER2423PHEPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010098Polymorphismp.SER4190PHEN/A
Swiss-ProtVAR_011031Diseasep.SER75PHEPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058799Polymorphismp.THR2977ASNN/A
Swiss-ProtVAR_058786Diseasep.THR2083ILEPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_012463Polymorphismp.THR2649ILEN/A
Swiss-ProtVAR_056700Polymorphismp.THR1734LYSN/A
Swiss-ProtVAR_058794Diseasep.THR2422LYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058775Polymorphismp.THR1242METN/A
Swiss-ProtVAR_058778Polymorphismp.THR1649METN/A
Swiss-ProtVAR_011038Polymorphismp.THR2250METN/A
Swiss-ProtVAR_012460Polymorphismp.THR2582METN/A
Swiss-ProtVAR_011046Polymorphismp.THR2708METN/A
Swiss-ProtVAR_013839Diseasep.THR3382METPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010091Diseasep.THR3510METPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058779Diseasep.THR1667PROPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_010087Polymorphismp.TRP1399ARGN/A
Swiss-ProtVAR_064392Diseasep.TRP3603ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_012453Diseasep.TRP967ARGPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011032Diseasep.TRP139CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058811Polymorphismp.TRP3726SERN/A
Swiss-ProtVAR_058788Diseasep.TYR2185ASPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011040Diseasep.TYR2336ASPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_068026Diseasep.TYR698ASPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058787Diseasep.TYR2092CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011041Diseasep.TYR2379CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_068024Diseasep.TYR325CYSPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_005547Polymorphismp.VAL4058ALAN/A
Swiss-ProtVAR_058769Diseasep.VAL690ASPPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011034Diseasep.VAL1956GLUPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_068027Diseasep.VAL1206GLYPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058784Polymorphismp.VAL1943ILEN/A
Swiss-ProtVAR_011059Polymorphismp.VAL2905ILEN/A
Swiss-ProtVAR_012469Diseasep.VAL3285ILEPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_058817Polymorphismp.VAL4146ILEN/A
Swiss-ProtVAR_005539Diseasep.VAL3008LEUPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011052Diseasep.VAL2768METPolycystic kidney disease 1 (PKD1)
Swiss-ProtVAR_011054Polymorphismp.VAL2782METN/A
Swiss-ProtVAR_058800Polymorphismp.VAL3008METN/A
Swiss-ProtVAR_058802Polymorphismp.VAL3057METN/A
Swiss-ProtVAR_058803Polymorphismp.VAL3138METN/A
Swiss-ProtVAR_005541Diseasep.VAL3375METPolycystic kidney disease 1 (PKD1)



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