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Results for the Protein: O75197
62512139

LRP5_HUMAN RecName: Full=Low-density lipoprotein receptor-related protein 5; Short=LRP-5; Flags: Precursor

Known Diseases associated with this Protein:
  ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
  ENDOSTEAL HYPEROSTOSIS, WORTH TYPE (WENHY)
  EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT
  EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
  EXUDATIVE VITREORETINOPATHY 4, DIGENIC
  HIGH BONE MASS
  HIGH BONE MASS TRAIT (HBM)
  OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
  OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OPTA1)
  OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, INCLUDED;;
  OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
  OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OPPG)
  OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, INCLUDED
  OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
  VAN BUCHEM DISEASE 2 (VBCH2)
  VAN BUCHEM DISEASE, TYPE 2,
  VITREORETINOPATHY, EXUDATIVE 4 (EVR4)
76
11
25
2
60
Tips:
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Default View:

LY - smart00135
Ldl_recept_b - pfam00058
EGF - smart00181
EGF - pfam00008
EGF - cd00053
Ldl_recept_a - pfam00057
LDLa - smart00192
LDLa - cd00112


Swiss-Prot Protein: O75197
Identical to: NP_002326
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LDLacd001121.6e-1112591295
LDLacd001121.1e-1312981332
LDLacd001121e-1413361370
Ldl_recept_bpfam000586.4e-13120159
Ldl_recept_bpfam000587.5e-15163203
Ldl_recept_bpfam000586.9e-05207246
EGFpfam000083.2e-05299335
Ldl_recept_bpfam000582.4e-07385424
Ldl_recept_bpfam000583.4e-12428467
Ldl_recept_bpfam000581.7e-13471511
Ldl_recept_bpfam000582.3e-05515554
EGFpfam000080.00041605639
Ldl_recept_bpfam000583.5e-08687726
Ldl_recept_bpfam000581.4e-07730769
Ldl_recept_bpfam000580.00013773812
Ldl_recept_bpfam000586.5e-06816854
Ldl_recept_bpfam000585.6e-05856895
Ldl_recept_bpfam000581.1e-0510791120
Ldl_recept_bpfam000586.6e-0511241163
EGFpfam000080.0001612171252
Ldl_recept_apfam000579.5e-1612571295
Ldl_recept_apfam000578.9e-1412961332
Ldl_recept_apfam000576.5e-1413341370
LYsmart001352.1e-14100142
LYsmart001353.4e-16143186
LYsmart001354.7e-15187229
LYsmart001351.5e-06230271
EGFsmart001810.00011298337
LYsmart001351.1e-09365407
LYsmart001351.9e-17408450
LYsmart001357.4e-18451494
LYsmart001351.1e-16495537
LYsmart001351.1e-06538578
EGFsmart001811.4e-05604641
LYsmart001353.5e-09667709
LYsmart001352.5e-15710752
LYsmart001351.4e-12753796
LYsmart001351.7e-07797838
LYsmart001352.3e-05839879
EGFsmart001810.00046905942
LYsmart001350.000139691010
LYsmart001351.6e-0610591103
LYsmart001356.3e-1011041146
LDLasmart001924.3e-1312581292
LDLasmart001928.9e-1212971329
LDLasmart001923.9e-1213351367

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063952Diseasep.ALA400GLUOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063980Polymorphismp.ALA1537THRN/A
Swiss-ProtVAR_021810Diseasep.ALA214THREndosteal hyperostosis, Worth type (WENHY)
Swiss-ProtVAR_021812Diseasep.ALA242THRVan Buchem disease 2 (VBCH2)
Swiss-ProtVAR_063941Polymorphismp.ALA29THRN/A
Swiss-ProtVAR_063964Diseasep.ALA522THRVitreoretinopathy, exudative 4 (EVR4)
dbSNPrs3736228 Polymorphismp.ALA1330VALN/A
Swiss-ProtVAR_021225Polymorphismp.ALA1525VALN/A
Swiss-ProtVAR_021811Diseasep.ALA214VALEndosteal hyperostosis, Worth type (WENHY)
Swiss-ProtVAR_063942Polymorphismp.ALA97VALN/A
Swiss-ProtVAR_063976Diseasep.ARG1113CYSOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063957Diseasep.ARG444CYSVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063974Polymorphismp.ARG1036GLNN/A
Swiss-ProtVAR_063949Diseasep.ARG353GLNOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_021814Diseasep.ARG494GLNOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_021222Diseasep.ARG570GLNVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_021223Diseasep.ARG752GLYVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063944Diseasep.ARG154METHigh bone mass trait (HBM)
Swiss-ProtVAR_063948Diseasep.ARG348TRPOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_021815Diseasep.ARG570TRPOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063973Diseasep.ARG805TRPVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063977Diseasep.ASN1121ASPVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063965Diseasep.ASN531ILEOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063962Diseasep.ASP511ALAVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063945Diseasep.ASP203ASNOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063955Diseasep.ASP434ASNOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063970Diseasep.ASP683ASNOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063975Diseasep.ASP1099TYROsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_021807Diseasep.ASP111TYROsteopetrosis, autosomal dominant 1 (OPTA1)
Swiss-ProtVAR_018467Diseasep.CYS1361GLYVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063978Diseasep.CYS1253PHEVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_021806Polymorphismp.GLN89ARGN/A
Swiss-ProtVAR_021224Diseasep.GLU1367LYSVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063956Diseasep.GLU441LYSVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063959Diseasep.GLU460LYSOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_021808Diseasep.GLY171ARGOsteopetrosis, autosomal dominant 1 (OPTA1)
Swiss-ProtVAR_063953Diseasep.GLY404ARGOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063967Diseasep.GLY550ARGVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063968Diseasep.GLY610ARGVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063979Diseasep.GLY1401ASPOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_021809Diseasep.GLY171VALHigh bone mass trait (HBM)
Swiss-ProtVAR_063963Diseasep.GLY520VALOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063943Diseasep.LEU145PHEVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063412Diseasep.MET282VALHigh bone mass trait (HBM)
Swiss-ProtVAR_063969Diseasep.PHE617CYSVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063950Diseasep.SER356LEUOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063958Polymorphismp.SER455LEUN/A
Swiss-ProtVAR_063947Diseasep.SER307PHEOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063954Diseasep.THR409ALAOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063972Diseasep.THR798ALAVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_021813Diseasep.THR253ILEOsteopetrosis, autosomal dominant 1 (OPTA1)
Swiss-ProtVAR_063951Diseasep.THR390LYSOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063981Polymorphismp.THR1540METN/A
Swiss-ProtVAR_018465Diseasep.THR173METVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063946Diseasep.THR244METOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063966Diseasep.THR535METVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063960Diseasep.TRP478ARGOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_063961Diseasep.TRP504CYSOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_018466Diseasep.TYR1168HISVitreoretinopathy, exudative 4 (EVR4)
Swiss-ProtVAR_063971Diseasep.TYR733HISOsteoporosis-pseudoglioma syndrome (OPPG)
Swiss-ProtVAR_035208Polymorphismp.VAL1204LEUN/A
dbSNPrs4988321 Polymorphismp.VAL667METN/A
OMIM603506.0016 Diseasep.ALA214THRENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
OMIM603506.0015 Diseasep.ALA242THRENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT||OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, INCLUDED;;||VAN BUCHEM DISEASE, TYPE 2,
OMIM603506.0017 Diseasep.ALA214VALOSTEOSCLEROSIS, AUTOSOMAL DOMINANT
OMIM603506.0026 Diseasep.ARG444CYSEXUDATIVE VITREORETINOPATHY 4, DIGENIC
OMIM603506.0007 Diseasep.ARG494GLNOSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0022 Diseasep.ARG570GLNEXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
OMIM603506.0023 Diseasep.ARG752GLYEXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
OMIM603506.0032 Diseasep.ARG1534TEROSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0002 Diseasep.ARG428TEROSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0008 Diseasep.ARG570TRPOSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0004 Diseasep.ASP718TEROSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0005 Diseasep.GLN853TEROSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0024 Diseasep.GLU1367LYSEXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
OMIM603506.0010 Diseasep.GLU485TEROSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0014 Diseasep.GLY171ARGOSTEOPETROSIS, AUTOSOMAL DOMINANT 1
OMIM603506.0027 Diseasep.GLY610ARGEXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
OMIM603506.0013 Diseasep.GLY171VALHIGH BONE MASS
OMIM603506.0025 Diseasep.LEU145PHEEXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT||OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, INCLUDED
OMIM603506.0030 Diseasep.PRO382LEUOSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0018 Diseasep.THR253ILEOSTEOPETROSIS, AUTOSOMAL DOMINANT 1
OMIM603506.0031 Diseasep.THR244METOSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0029 Diseasep.THR552METOSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0001 Diseasep.TRP10TEROSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0011 Diseasep.TRP734TEROSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM603506.0009 Diseasep.VAL667METOSTEOPOROSIS-PSEUDOGLIOMA SYNDROME



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