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Results for the Protein: P08F94
296439717

PKHD1_HUMAN RecName: Full=Fibrocystin; AltName: Full=Polycystic kidney and hepatic disease 1 protein; AltName: Full=Polyductin; AltName: Full=Tigmin; Flags: Precursor

Known Diseases associated with this Protein:
  COLORECTAL CANCER, PROTECTION AGAINST, INCLUDED
  POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
  POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE (ARPKD)
107
48
8
10
137
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Default View:

IPT - cd00102
IPT_plexin_repeat2 - cd01179
IPT_PCSR - cd00603
TIG - pfam01833
IPT_plexin_repeat1 - cd01180
IPT - smart00429
G8 - pfam10162


Swiss-Prot Protein: P08F94
Identical to: NP_619639
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IPTcd001021.5e-12259356
IPT_PCSRcd006031.1e-12259336
IPT_plexin_repeat2cd011790.00075259356
IPT_plexin_repeat1cd011800.00011260339
IPTcd001021.9e-1310191104
IPT_PCSRcd006033.4e-1310191104
IPT_plexin_repeat1cd011802.8e-0510191104
IPTcd001021.9e-1311961295
IPT_PCSRcd006033.3e-1811961295
IPTcd001023.1e-1213891483
IPT_PCSRcd006031.7e-1513891483
IPTcd001020.0003715731660
TIGpfam018337.2e-09259334
TIGpfam018332.7e-099311015
TIGpfam018333.4e-0910191102
TIGpfam018334.9e-0611081192
TIGpfam018336e-0913891480
TIGpfam018338.4e-1014861569
TIGpfam018331e-0615731647
IPTsmart004290.0006911951294
G8pfam101627.1e-5419322053
G8pfam101625.1e-4027472873

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018541Diseasep.ALA1030GLUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018564Polymorphismp.ALA2615GLYN/A
Swiss-ProtVAR_018544Polymorphismp.ALA1150PRON/A
Swiss-ProtVAR_066431Diseasep.ALA2009THRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066444Diseasep.ALA3207THRPolycystic kidney disease, autosomal recessive (ARPKD)
dbSNPrs9296669 Polymorphismp.ALA1262VALN/A
Swiss-ProtVAR_018520Diseasep.ALA17VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066420Diseasep.ALA293VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018575Polymorphismp.ALA3072VALN/A
Swiss-ProtVAR_036229Polymorphismp.ARG1081CYSN/A
Swiss-ProtVAR_066438Diseasep.ARG2573CYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018591Diseasep.ARG3482CYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066446Diseasep.ARG3957CYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066425Polymorphismp.ARG723CYSN/A
dbSNPrs9370096 Polymorphismp.ARG760CYSN/A
Swiss-ProtVAR_036228Polymorphismp.ARG19HISN/A
Swiss-ProtVAR_027443Polymorphismp.ARG3913HISN/A
Swiss-ProtVAR_014044Diseasep.ARG760HISPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018580Polymorphismp.ARG3143ILEN/A
Swiss-ProtVAR_018598Polymorphismp.ARG3842LEUN/A
Swiss-ProtVAR_018578Polymorphismp.ARG3107PRON/A
Swiss-ProtVAR_018529Polymorphismp.ARG488PRON/A
Swiss-ProtVAR_018530Diseasep.ARG496PROPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014051Diseasep.ARG1624TRPPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_051282Polymorphismp.ARG760TRPN/A
Swiss-ProtVAR_066416Diseasep.ARG92TRPPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018582Diseasep.ASN3175ASPPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018583Diseasep.ASN3175SERPolycystic kidney disease, autosomal recessive (ARPKD)
dbSNPrs62406032 Polymorphismp.ASN830SERN/A
Swiss-ProtVAR_018577Polymorphismp.ASP3088ASNN/A
Swiss-ProtVAR_018533Diseasep.ASP703ASNPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018557Diseasep.ASP1942GLYPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018572Diseasep.ASP2962GLYPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018567Diseasep.ASP2761TYRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_027440Polymorphismp.ASP3052TYRN/A
Swiss-ProtVAR_014060Polymorphismp.ASP3139TYRN/A
Swiss-ProtVAR_018586Diseasep.ASP3293VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066436Diseasep.CYS2422ARGPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066441Diseasep.CYS2803ARGPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018587Diseasep.CYS3346ARGPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018563Diseasep.CYS2422GLYPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018566Diseasep.CYS2688PHEPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014048Diseasep.CYS1249TRPPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014047Polymorphismp.CYS1204TYRN/A
Swiss-ProtVAR_018547Diseasep.CYS1472TYRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018596Diseasep.CYS3622TYRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014054Diseasep.GLN1917ARGPolycystic kidney disease, autosomal recessive (ARPKD)
dbSNPrs4715227 Polymorphismp.GLN3899ARGN/A
dbSNPrs9381994 Polymorphismp.GLN4048ARGN/A
Swiss-ProtVAR_018526Polymorphismp.GLU457ASPN/A
Swiss-ProtVAR_018594Diseasep.GLU3529GLNPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014055Diseasep.GLU1995GLYPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_036231Polymorphismp.GLU1806LYSN/A
Swiss-ProtVAR_018595Polymorphismp.GLU3551LYSN/A
Swiss-ProtVAR_066437Diseasep.GLU2431VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018592Diseasep.GLU3502VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066427Polymorphismp.GLY1712ARGN/A
Swiss-ProtVAR_066435Diseasep.GLY2224ARGPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018558Diseasep.GLY1971ASPPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066433Diseasep.GLY2210GLUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066421Diseasep.GLY466GLUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014046Diseasep.GLY1122SERPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018542Diseasep.GLY1123SERPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018522Diseasep.GLY223SERPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018524Diseasep.GLY326VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066422Diseasep.GLY470VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066443Diseasep.HIS3049ARGPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066424Diseasep.HIS686PROPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018579Diseasep.HIS3124TYRPolycystic kidney disease, autosomal recessive (ARPKD)
dbSNPrs76260483 Polymorphismp.ILE2364ASNN/A
dbSNPrs2661488 Polymorphismp.ILE3905ASNN/A
Swiss-ProtVAR_018581Diseasep.ILE3167LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018536Diseasep.ILE757LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014056Diseasep.ILE2331LYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018562Diseasep.ILE2303PHEPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018527Diseasep.ILE473SERPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018559Diseasep.ILE1998THRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066417Diseasep.ILE246THRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014058Diseasep.ILE2957THRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018523Diseasep.ILE307THRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018584Diseasep.ILE3177THRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014061Diseasep.ILE3553THRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066423Diseasep.ILE539THRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014040Diseasep.ILE222VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018521Polymorphismp.ILE25VALN/A
Swiss-ProtVAR_066419Polymorphismp.ILE292VALN/A
Swiss-ProtVAR_018576Diseasep.ILE3081VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018589Diseasep.ILE3468VALPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_036230Polymorphismp.LEU1096ARGN/A
Swiss-ProtVAR_014050Diseasep.LEU1407ARGPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066432Diseasep.LEU2106ARGPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018550Polymorphismp.LEU1709PHEN/A
Swiss-ProtVAR_018561Diseasep.LEU2134PROPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018568Diseasep.LEU2772PROPolycystic kidney disease, autosomal recessive (ARPKD)
dbSNPrs2435322 Polymorphismp.LEU1870VALN/A
dbSNPrs117122807 Polymorphismp.LYS626ARGN/A
Swiss-ProtVAR_066442Diseasep.MET2804LYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018540Diseasep.MET997LYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014041Diseasep.PHE253LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_027439Diseasep.PHE372LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066426Diseasep.PRO724ARGPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018548Diseasep.PRO1486LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018535Diseasep.PRO739LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018537Diseasep.PRO805LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018597Diseasep.PRO3783SERPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018546Diseasep.PRO1389THRPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018593Polymorphismp.SER3505ARGN/A
Swiss-ProtVAR_018555Diseasep.SER1867ASNPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018569Diseasep.SER2861GLYPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018549Diseasep.SER1584ILEPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018585Polymorphismp.SER3289ILEN/A
Swiss-ProtVAR_018545Polymorphismp.SER1283LEUN/A
Swiss-ProtVAR_018553Diseasep.SER1833LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066434Diseasep.SER2219LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018573Diseasep.SER2983LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014052Diseasep.SER1664PHEPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014059Diseasep.SER3018PHEPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018565Diseasep.THR2641ALAPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018551Diseasep.THR1781ILEPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018571Polymorphismp.THR2869LYSN/A
Swiss-ProtVAR_014057Polymorphismp.THR2938METN/A
Swiss-ProtVAR_014039Diseasep.THR36METPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018531Polymorphismp.THR579METN/A
Swiss-ProtVAR_014042Polymorphismp.THR752METN/A
Swiss-ProtVAR_018539Diseasep.THR899PROPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014045Polymorphismp.TRP852ARGN/A
Swiss-ProtVAR_018532Diseasep.TRP656CYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066430Diseasep.TRP1928LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018543Polymorphismp.TYR1136CYSN/A
Swiss-ProtVAR_018554Diseasep.TYR1838CYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066418Diseasep.TYR255CYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018570Diseasep.TYR2863CYSPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066439Polymorphismp.TYR2661HISN/A
Swiss-ProtVAR_018528Diseasep.TYR486HISPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066445Polymorphismp.VAL3219ALAN/A
Swiss-ProtVAR_018588Polymorphismp.VAL3440ASPN/A
Swiss-ProtVAR_066428Diseasep.VAL1817GLYPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066429Diseasep.VAL1875GLYPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_066440Diseasep.VAL2798GLYPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018574Diseasep.VAL3036GLYPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018590Diseasep.VAL3471GLYPolycystic kidney disease, autosomal recessive (ARPKD)
dbSNPrs9474034 Polymorphismp.VAL3837ILEN/A
Swiss-ProtVAR_014062Polymorphismp.VAL3960ILEN/A
Swiss-ProtVAR_018552Diseasep.VAL1789LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018560Diseasep.VAL2032LEUPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_014053Diseasep.VAL1741METPolycystic kidney disease, autosomal recessive (ARPKD)
Swiss-ProtVAR_018534Polymorphismp.VAL732PHEN/A
OMIM606702.0005 Diseasep.ARG2671TERPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
OMIM606702.0007 Diseasep.ARG496TERPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
OMIM606702.0006 Diseasep.ILE3553THRPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
OMIM606702.0002 Diseasep.SER1664PHEPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
OMIM606702.0003 Diseasep.SER3018PHEPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
OMIM606702.0001 Diseasep.THR36METPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE||COLORECTAL CANCER, PROTECTION AGAINST, INCLUDED
OMIM606702.0008 Diseasep.VAL3471GLYPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
OMIM606702.0004 Diseasep.VAL1741METPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE



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