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Results for the Protein: P98155
1730111

VLDLR_HUMAN RecName: Full=Very low-density lipoprotein receptor; Short=VLDL receptor; Short=VLDL-R; Flags: Precursor

Known Diseases associated with this Protein:
  1
  CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION
  CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE
  CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME
3
7
3
1
6
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
Ldl_recept_b - pfam00058
LY - smart00135


Swiss-Prot Protein: P98155
Identical to: NP_003374
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LDLacd001124.2e-173367
LDLacd001127.7e-1572108
LDLacd001125.8e-11113149
LDLacd001121.6e-16154188
LDLacd001123.3e-13193229
LDLacd001121.4e-16239273
LDLacd001121.4e-13278312
LDLacd001121.8e-11318355
EGF_CAcd000547.8e-08356395
EGFcd000536.7e-08359395
EGF_CAcd000541.3e-11396435
EGFcd000536.5e-07399435
Ldl_recept_apfam000572e-183167
Ldl_recept_apfam000573.2e-1770108
Ldl_recept_apfam000578.5e-13111149
Ldl_recept_apfam000576.2e-16152188
Ldl_recept_apfam000571.5e-17191229
Ldl_recept_apfam000572.9e-18237273
Ldl_recept_apfam000574.9e-16276312
Ldl_recept_apfam000577.6e-15316355
EGFpfam000085.3e-05360390
Ldl_recept_bpfam000582.6e-10481521
Ldl_recept_bpfam000582.7e-13525564
Ldl_recept_bpfam000582.5e-16568608
Ldl_recept_bpfam000581.2e-11612653
Ldl_recept_bpfam000582.8e-07655694
LDLasmart001922.3e-153264
LDLasmart001926.4e-1571103
LDLasmart001923.5e-11112146
LDLasmart001926.6e-16153185
LDLasmart001925.8e-14192224
LDLasmart001923.3e-15238270
LDLasmart001921.8e-12277309
LDLasmart001921.1e-10317350
EGF_CAsmart001791.7e-09356395
EGFsmart001812.7e-09359395
EGF_CApfam076452.5e-10396434
EGF_CAsmart001792.8e-13396435
EGFsmart001819.1e-08399435
LYsmart001351e-14505547
LYsmart001351.3e-13548591
LYsmart001359.5e-13592634
LYsmart001352.7e-05635678

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_025066Polymorphismp.ARG613HISN/A
Swiss-ProtVAR_011866Polymorphismp.GLU379LYSN/A
Swiss-ProtVAR_025065Polymorphismp.ILE561VALN/A
Swiss-ProtVAR_025064Polymorphismp.LEU464ILEN/A
Swiss-ProtVAR_025063Polymorphismp.PRO262HISN/A
dbSNPrs6149 Polymorphismp.VAL59ILEN/A
Swiss-ProtVAR_025067Polymorphismp.VAL791ILEN/A
OMIM192977.0002 Diseasep.ARG257TERCEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION||1
OMIM192977.0004 Diseasep.ARG448TERCEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE
OMIM192977.0006 Diseasep.CYS706PHECEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME||1



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