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Results for the Protein: P98164
160332309

LRP2_HUMAN RecName: Full=Low-density lipoprotein receptor-related protein 2; Short=LRP-2; AltName: Full=Glycoprotein 330; Short=gp330; AltName: Full=Megalin; Flags: Precursor

Known Diseases associated with this Protein:
  DONNAI-BARROW SYNDROME
  DONNAI-BARROW SYNDROME (DBS)
5
19
4
8
12
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

Ldl_recept_a - pfam00057
LDLa - smart00192
LDLa - cd00112
EGF_CA - smart00179
EGF_CA - cd00054
EGF - smart00181
LY - smart00135
Ldl_recept_b - pfam00058
EGF - cd00053
EGF_CA - pfam07645
EGF - pfam00008


Swiss-Prot Protein: P98164
Identical to: NP_004516
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LDLacd001126.5e-1467103
LDLacd001123.7e-14108142
LDLacd001122.8e-07147179
LDLacd001121.7e-15183217
LDLacd001122.1e-13222256
LDLacd001121.6e-10266307
EGF_CAcd000540.00026348386
LDLacd001125.3e-1410261060
LDLacd001123.4e-1510671101
LDLacd001122.4e-1511091143
LDLacd001127.8e-1611491183
LDLacd001126.6e-1311871222
LDLacd001121.3e-1212301266
LDLacd001126.8e-1512711305
LDLacd001121.6e-1013121348
EGFcd000531.8e-0513521389
EGF_CAcd000541.8e-1213901429
EGFcd000531.1e-0813931429
EGFcd000530.0007217031741
EGFcd000531.3e-0620212059
LDLacd001126.5e-1527002736
LDLacd001124.7e-1627412775
LDLacd001121.5e-1127802817
LDLacd001121.2e-1328222859
LDLacd001122.5e-1428642899
LDLacd001121.4e-1429062943
LDLacd001121.3e-1329482988
LDLacd001121.5e-1529933027
LDLacd001126.3e-1630323068
LDLacd001121.6e-1430753109
EGF_CAcd000546.7e-0931103151
EGFcd000535.6e-0931133151
EGF_CAcd000543.1e-1331523192
EGFcd000534.5e-0931553192
LDLacd001121.3e-1735123548
LDLacd001121.1e-0835533589
LDLacd001125e-1435943630
LDLacd001122.1e-1636353671
LDLacd001122.8e-1336783714
LDLacd001125.4e-1737193754
LDLacd001121.5e-1537593793
LDLacd001127e-1437983832
LDLacd001123.5e-1638423878
LDLacd001123.4e-1338833920
LDLacd001121.1e-1239283962
EGF_CAcd000543.7e-1040074048
EGFcd000531.4e-0840104048
Ldl_recept_apfam000574.2e-112662
Ldl_recept_apfam000576.7e-1465103
Ldl_recept_apfam000577.9e-12106142
Ldl_recept_apfam000570.00014145179
Ldl_recept_apfam000572.6e-12181217
Ldl_recept_apfam000574.6e-12220256
Ldl_recept_apfam000573.8e-06264301
Ldl_recept_bpfam000588.8e-05436475
Ldl_recept_bpfam000581.1e-07479518
Ldl_recept_bpfam000589e-06522565
Ldl_recept_bpfam000580.00018796834
Ldl_recept_bpfam000582.6e-07838878
Ldl_recept_apfam000572e-1210241060
Ldl_recept_apfam000576.6e-1510651101
Ldl_recept_apfam000574e-1211071143
Ldl_recept_apfam000572.7e-1511471183
Ldl_recept_apfam000573.8e-0811851222
Ldl_recept_apfam000571.4e-0912281266
Ldl_recept_apfam000572.6e-1412691305
Ldl_recept_apfam000576.5e-0613101348
Ldl_recept_bpfam000582.4e-1115211560
Ldl_recept_bpfam000581.5e-0815661606
Ldl_recept_bpfam000582.1e-1218831927
Ldl_recept_bpfam000582.7e-0519311969
Ldl_recept_bpfam000583.6e-0622022242
Ldl_recept_bpfam000585.8e-0725192559
Ldl_recept_bpfam000581.5e-0625632601
Ldl_recept_apfam000573.1e-1226982736
Ldl_recept_apfam000577.6e-1527392775
Ldl_recept_apfam000571.1e-0727782817
Ldl_recept_apfam000574.8e-1028202859
Ldl_recept_apfam000571.2e-1628622899
Ldl_recept_apfam000577.9e-1429042943
Ldl_recept_apfam000572e-1029462988
Ldl_recept_apfam000571.4e-1329913027
Ldl_recept_apfam000571.7e-1330303068
Ldl_recept_apfam000576e-1430733109
Ldl_recept_bpfam000581.1e-1632823329
Ldl_recept_bpfam000583e-1133333373
Ldl_recept_bpfam000584.4e-0833773416
Ldl_recept_bpfam000580.0006934183457
EGFpfam000080.0005934693506
Ldl_recept_apfam000572.1e-1235103548
Ldl_recept_apfam000570.0001135513589
Ldl_recept_apfam000574.5e-1135923630
Ldl_recept_apfam000573.2e-1736333671
Ldl_recept_apfam000572.7e-0736763714
Ldl_recept_apfam000571.7e-1537173754
Ldl_recept_apfam000573.5e-1137573793
Ldl_recept_apfam000579.7e-1337963832
Ldl_recept_apfam000575.2e-1338403878
Ldl_recept_apfam000577.5e-1038813920
Ldl_recept_apfam000571.6e-0939263962
Ldl_recept_bpfam000588.6e-0941544193
Ldl_recept_bpfam000582.8e-1041974237
LDLasmart001922.1e-122759
LDLasmart001923.6e-136699
LDLasmart001921.8e-14107139
LDLasmart001925.1e-05146176
LDLasmart001922.2e-14182214
LDLasmart001927.5e-14221253
LDLasmart001922.5e-11265298
EGF_CAsmart001791.3e-05348386
EGFsmart001810.00031351386
LYsmart001354.6e-07415458
LYsmart001351.3e-08459501
LYsmart001356e-17502548
LYsmart001351.1e-12549591
EGFsmart001810.00054662705
LYsmart001354e-12776818
LYsmart001354e-08819861
LYsmart001357.4e-14862904
LDLasmart001922.6e-1310251057
LDLasmart001921.5e-1410661098
LDLasmart001922.8e-1311081140
LDLasmart001923.4e-1511481180
LDLasmart001922.2e-1111861219
LDLasmart001921.2e-1112291262
LDLasmart001923.7e-1512701302
LDLasmart001924.4e-1013111344
EGF_CAsmart001790.0007313491389
EGFsmart001811.3e-0613521389
EGF_CApfam076451.7e-0813901428
EGF_CAsmart001797.6e-1413901429
EGFsmart001811.3e-0913931429
LYsmart001352.9e-0514591500
LYsmart001353.5e-1415011543
LYsmart001352e-1615441589
LYsmart001351.7e-1015901632
LYsmart001350.0004216331676
EGFsmart001811.2e-0517031741
LYsmart001355.1e-0918581910
LYsmart001353.8e-1019111953
EGFsmart001811.2e-0720212059
LYsmart001356.8e-0721352181
LYsmart001356.2e-1321822225
LYsmart001357.5e-1222262268
LYsmart001356.4e-1124582500
LYsmart001352.3e-0925012542
LYsmart001352.1e-1225432585
LDLasmart001925.2e-1426992731
LDLasmart001924.9e-1527402772
LDLasmart001929.4e-1027792814
LDLasmart001925.2e-1328212854
LDLasmart001921.5e-1428632895
LDLasmart001921.9e-1529052937
LDLasmart001929e-1229472984
LDLasmart001925.7e-1529923024
LDLasmart001922.3e-1530313063
LDLasmart001921.5e-1430743106
EGF_CAsmart001791.4e-0831103151
EGFsmart001816.3e-1031133151
EGF_CApfam076453.7e-1231523191
EGF_CAsmart001791.3e-1431523192
EGFsmart001813.4e-1031553192
LYsmart001359.9e-1132193261
LYsmart001352.3e-1232623304
LYsmart001352.9e-1133113356
LYsmart001351e-1433573399
LYsmart001351.1e-0734003441
LDLasmart001923.4e-1635113544
LDLasmart001923.8e-0835523584
LDLasmart001921e-1335933625
LDLasmart001927.8e-1736343666
LDLasmart001928.6e-1436773711
LDLasmart001926.1e-1637183751
LDLasmart001928.2e-1537583790
LDLasmart001921.9e-1337973829
LDLasmart001921.8e-1438413873
LDLasmart001921.5e-1138823915
LDLasmart001921.8e-1139273959
EGFsmart001810.0001639694006
EGF_CApfam076453e-1040074047
EGF_CAsmart001795.8e-1240074048
EGFsmart001813.4e-0940104048
LYsmart001352.4e-1341344176
LYsmart001351.1e-1341774220
LYsmart001351.8e-1342214264

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61995913 Polymorphismp.ALA1901GLYN/A
Swiss-ProtVAR_005421Polymorphismp.ALA1287PRON/A
dbSNPrs2228171 Polymorphismp.ALA2872SERN/A
Swiss-ProtVAR_005422Polymorphismp.ALA2872THRN/A
Swiss-ProtVAR_020219Polymorphismp.ARG3305HISN/A
dbSNPrs4667596 Polymorphismp.ARG2012LYSN/A
Swiss-ProtVAR_037014Polymorphismp.ARG3011METN/A
Swiss-ProtVAR_029184Polymorphismp.ASN2632ASPN/A
dbSNPrs2229263 Polymorphismp.ASN83SERN/A
dbSNPrs17848149 Polymorphismp.ASP1279ALAN/A
Swiss-ProtVAR_064727Polymorphismp.CYS103ARGN/A
dbSNPrs34693334 Polymorphismp.GLY259ARGN/A
Swiss-ProtVAR_037010Polymorphismp.GLY669ASPN/A
dbSNPrs36082715 Polymorphismp.HIS909ARGN/A
Swiss-ProtVAR_037012Polymorphismp.HIS1083GLNN/A
dbSNPrs4667591 Polymorphismp.ILE4210LEUN/A
Swiss-ProtVAR_020218Polymorphismp.ILE2065THRN/A
Swiss-ProtVAR_005423Polymorphismp.LYS4094GLUN/A
Swiss-ProtVAR_035996Polymorphismp.MET4272VALN/A
Swiss-ProtVAR_037013Diseasep.TYR2522HISDonnai-Barrow syndrome (DBS)
OMIM600073.0006 Diseasep.ARG3399TERDONNAI-BARROW SYNDROME
OMIM600073.0008 Diseasep.ARG365TERDONNAI-BARROW SYNDROME
OMIM600073.0010 Diseasep.ASP2054ASNDONNAI-BARROW SYNDROME
OMIM600073.0001 Diseasep.TYR2522HISDONNAI-BARROW SYNDROME



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