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Results for the Protein: NP_001009944
205360954

polycystin-1 isoform 1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  POLYCYSTIC KIDNEY DISEASE 1
  POLYCYSTIC KIDNEY DISEASE 1, SEVERE
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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




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 ↕
dbSNPrs34197769 Polymorphismp.ALA3512VALN/A
dbSNPrs3209986 Polymorphismp.ALA4059VALN/A
dbSNPrs13337123 Polymorphismp.GLU2966ASPN/A
dbSNPrs10960 Polymorphismp.ILE4045VALN/A
dbSNPrs2549677 Polymorphismp.MET1092THRN/A
dbSNPrs77028972 Polymorphismp.PHE3066LEUN/A
dbSNPrs148709380 Polymorphismp.THR938METN/A
dbSNPrs116092985 Polymorphismp.TRP1399ARGN/A
dbSNPrs13333553 Polymorphismp.TRP2882ARGN/A
dbSNPrs61747420 Polymorphismp.VAL3409LEUN/A
OMIM601313.0011 Diseasep.ARG324LEUPOLYCYSTIC KIDNEY DISEASE 1
OMIM601313.0004 Diseasep.ARG4227TERPOLYCYSTIC KIDNEY DISEASE 1
OMIM601313.0006 Diseasep.CYS4086TERPOLYCYSTIC KIDNEY DISEASE 1
OMIM601313.0002 Diseasep.GLN1273TERPOLYCYSTIC KIDNEY DISEASE 1
OMIM601313.0013 Diseasep.GLN1922TERPOLYCYSTIC KIDNEY DISEASE 1
OMIM601313.0005 Diseasep.GLN3837TERPOLYCYSTIC KIDNEY DISEASE 1
OMIM601313.0012 Diseasep.LEU845SERPOLYCYSTIC KIDNEY DISEASE 1
OMIM601313.0015 Diseasep.TRP4139TERPOLYCYSTIC KIDNEY DISEASE 1, SEVERE
OMIM601313.0007 Diseasep.TYR3818TERPOLYCYSTIC KIDNEY DISEASE 1



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