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Results for the Protein: Q14114
259016389

LRP8_HUMAN RecName: Full=Low-density lipoprotein receptor-related protein 8; Short=LRP-8; AltName: Full=Apolipoprotein E receptor 2; Flags: Precursor

Known Diseases associated with this Protein:
  MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1
1
11
1
2
9
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 - cd00054
EGF_CA - smart00179
EGF - cd00053
EGF - smart00181
EGF - pfam00008
EGF_CA - pfam07645
LY - smart00135
Ldl_recept_b - pfam00058


Swiss-Prot Protein: Q14114
Identical to: NP_004622
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LDLacd001129.2e-1386122
LDLacd001122e-11127163
LDLacd001122.5e-15167201
LDLacd001128.6e-14206245
LDLacd001121.3e-13259294
LDLacd001124.2e-13299333
EGF_CAcd000543.9e-05336375
EGFcd000531.5e-07339375
EGF_CAcd000548.8e-11376415
EGFcd000532.6e-05379415
Ldl_recept_apfam000574.6e-124581
Ldl_recept_apfam000579.7e-1484122
Ldl_recept_apfam000575.6e-06125163
Ldl_recept_apfam000571.2e-14165201
Ldl_recept_apfam000573.8e-11204245
Ldl_recept_apfam000573.7e-14257294
Ldl_recept_apfam000571.4e-11297333
EGFpfam000081.5e-05340373
Ldl_recept_bpfam000581.8e-09462505
Ldl_recept_bpfam000584.1e-15509548
Ldl_recept_bpfam000582.5e-15552592
Ldl_recept_bpfam000582.1e-12596637
Ldl_recept_bpfam000581.3e-09639678
LDLasmart001927.5e-124678
LDLasmart001925.4e-1385117
LDLasmart001925.3e-11126160
LDLasmart001929.1e-15166198
LDLasmart001926.7e-12205240
LDLasmart001924.1e-13258291
LDLasmart001922.3e-12298330
EGF_CAsmart001796.5e-06336375
EGFsmart001819.1e-09339375
EGF_CApfam076453.2e-07376414
EGF_CAsmart001797.7e-12376415
EGFsmart001810.00011379415
LYsmart001359.4e-05442484
LYsmart001358.5e-17489531
LYsmart001356.5e-15532575
LYsmart001357.1e-14576618
LYsmart001351.6e-06619662

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_059079Polymorphismp.ARG736GLNN/A
Swiss-ProtVAR_018469Polymorphismp.ARG952GLNN/A
Swiss-ProtVAR_018468Polymorphismp.ASP46GLUN/A
Swiss-ProtVAR_046974Polymorphismp.GLN25ARGN/A
Swiss-ProtVAR_037626Polymorphismp.GLN607ARGN/A
dbSNPrs5172 Polymorphismp.ILE736ASNN/A
Swiss-ProtVAR_037627Polymorphismp.ILE611LEUN/A
dbSNPrs5180 Polymorphismp.PRO453THRN/A
Swiss-ProtVAR_037628Polymorphismp.SER653THRN/A
Swiss-ProtVAR_037625Polymorphismp.TRP466CYSN/A
Swiss-ProtVAR_037624Polymorphismp.VAL453METN/A
OMIM602600.0001 Diseasep.ARG952GLNMYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1



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