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Results for the Protein: P07225
131086

PROS_HUMAN RecName: Full=Vitamin K-dependent protein S; Flags: Precursor

Known Diseases associated with this Protein:
  PROTEIN S HEERLEN
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (THPH5)
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (THPH6)
98
11
8
1
100
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Default View:

GLA - smart00069
Gla - pfam00594
EGF_CA - cd00054
EGF_CA - smart00179
EGF - cd00053
EGF - smart00181
EGF - pfam00008
EGF_CA - pfam07645
LamG - cd00110
LamG - smart00282
Laminin_G_2 - pfam02210
Laminin_G_1 - pfam00054


Swiss-Prot Protein: P07225
Identical to: NP_000304
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_CAcd000540.00086117155
EGFcd000536.8e-05120155
EGF_CAcd000544.8e-09157200
EGFcd000535.7e-07160200
EGF_CAcd000548.5e-13201242
EGFcd000536.3e-08204242
EGF_CAcd000541.9e-11243283
EGFcd000533.2e-06246283
LamGcd001101.9e-24303456
Glapfam005941.2e-164687
EGFpfam000082.9e-05121153
EGFpfam000083.6e-05205238
Laminin_G_1pfam000545.5e-42329459
Laminin_G_2pfam022104.3e-13329458
Laminin_G_2pfam022103.1e-06514647
GLAsmart000691.3e-352386
EGF_CAsmart001790.00069119155
EGFsmart001815.4e-05120155
EGF_CApfam076450.00032157199
EGF_CAsmart001791.1e-10157200
EGFsmart001811.5e-08160200
EGF_CApfam076451.4e-08201241
EGF_CAsmart001799.1e-13201242
EGFsmart001811.2e-07204242
EGF_CAsmart001794e-13243283
EGFsmart001811.4e-07246283
LamGsmart002821.4e-21321458

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046809Diseasep.ALA68ASPThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046868Diseasep.ALA525PROThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046879Diseasep.ALA616PROThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046819Diseasep.ARG101CYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046865Diseasep.ARG515CYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046814Diseasep.ARG90CYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_014119Diseasep.ARG561GLYThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046849Diseasep.ARG355HISThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046805Diseasep.ARG41HISThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046815Diseasep.ARG90HISThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
dbSNPrs7614835 Polymorphismp.ARG40LEUN/A
Swiss-ProtVAR_046804Diseasep.ARG40LEUThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046832Diseasep.ARG233LYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046866Diseasep.ARG515PROThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046820Diseasep.ARG111SERThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046875Polymorphismp.ASN583HISN/A
Swiss-ProtVAR_046828Polymorphismp.ASN168SERN/A
Swiss-ProtVAR_005567Diseasep.ASN258SERThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046827Diseasep.ASN166TYRThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046834Diseasep.ASP243ASNThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046852Diseasep.ASP376ASNThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046822Diseasep.ASP129GLYThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046825Diseasep.ASP157GLYThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046835Diseasep.ASP245GLYThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046838Diseasep.CYS265ARGThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046860Diseasep.CYS475ARGThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046890Diseasep.CYS666ARGThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046826Diseasep.CYS161GLYThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046836Diseasep.CYS247GLYThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046829Diseasep.CYS175PHEThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046884Diseasep.CYS639PHEThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046833Diseasep.CYS241SERThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046841Diseasep.CYS267SERThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046859Diseasep.CYS449SERThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046839Diseasep.CYS265TRPThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046821Diseasep.CYS121TYRThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046830Diseasep.CYS186TYRThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046873Diseasep.CYS568TYRThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046885Diseasep.CYS639TYRThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046813Diseasep.CYS88TYRThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046808Diseasep.GLU67ALAThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046831Diseasep.GLU204GLYThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_035981Polymorphismp.GLU545GLYN/A
Swiss-ProtVAR_046837Diseasep.GLU249LYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046857Diseasep.GLU390LYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046850Diseasep.GLY357ARGThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046817Diseasep.GLY95ARGThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046844Diseasep.GLY336ASPThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046853Diseasep.GLY381ASPThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046807Diseasep.GLY52ASPThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046867Diseasep.GLY521ASPThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046883Diseasep.GLY638ASPThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_014116Diseasep.GLY482CYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046816Diseasep.GLY95GLUThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046845Diseasep.GLY336SERThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046846Diseasep.GLY336VALThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046854Diseasep.GLY381VALThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046888Diseasep.HIS664PROThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046872Polymorphismp.ILE562LEUN/A
Swiss-ProtVAR_014118Polymorphismp.ILE559METN/A
Swiss-ProtVAR_046887Diseasep.ILE644SERThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046861Polymorphismp.ILE495VALN/A
Swiss-ProtVAR_046874Diseasep.LEU575ARGThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046880Diseasep.LEU622ARGThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046876Diseasep.LEU584GLNThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046802Diseasep.LEU15HISThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046842Diseasep.LEU300PROThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046847Diseasep.LEU339PROThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046848Diseasep.LEU351PROThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046858Diseasep.LEU446PROThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046869Diseasep.LEU526SERThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046871Diseasep.LEU552SERThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_005566Diseasep.LYS196GLUThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046851Diseasep.LYS364GLUThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046806Diseasep.LYS50GLUThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046877Diseasep.MET611LYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046878Diseasep.MET611THRThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046886Diseasep.MET640THRThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046856Polymorphismp.MET385VALN/A
Swiss-ProtVAR_046810Diseasep.PHE72CYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046891Diseasep.PRO667LEUThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046811Polymorphismp.PRO76LEUN/A
Swiss-ProtVAR_046862Diseasep.SER501ALAThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046889Diseasep.SER665LEUThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046843Diseasep.SER324PROThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_005568Polymorphismp.SER501PRON/A
Swiss-ProtVAR_046870Diseasep.THR532ALAThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046823Diseasep.THR144ASNThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046881Diseasep.THR630ILEThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_014666Diseasep.THR78METThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046818Polymorphismp.THR98SERN/A
Swiss-ProtVAR_046855Diseasep.TRP383ARGThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046824Diseasep.TRP149CYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_067302Diseasep.TYR234CYSThrombophilia due to protein S deficiency, autosomal recessive (THPH6)
Swiss-ProtVAR_046840Diseasep.TYR266CYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_014117Diseasep.TYR485CYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046882Diseasep.TYR636CYSThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046803Diseasep.VAL18GLUThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046863Diseasep.VAL508GLYThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046812Diseasep.VAL87LEUThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-ProtVAR_046864Diseasep.VAL508METThrombophilia due to protein S deficiency, autosomal dominant (THPH5)
OMIM176880.0009 Diseasep.ARG355CYSTHROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM176880.0008 Diseasep.ARG520GLYTHROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM176880.0011 Diseasep.ARG410TERTHROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM176880.0002 Diseasep.ASN217SERTHROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM176880.0007 Diseasep.GLN238TERTHROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM176880.0003 Diseasep.LYS155GLUTHROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM176880.0001 Diseasep.SER460PROPROTEIN S HEERLEN
OMIM176880.0012 Diseasep.TYR234CYSTHROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE



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