Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P11597
71153497

CETP_HUMAN RecName: Full=Cholesteryl ester transfer protein; AltName: Full=Lipid transfer protein I; Flags: Precursor

Known Diseases associated with this Protein:
  10
  HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS
  HYPERALPHALIPOPROTEINEMIA 1
  HYPERALPHALIPOPROTEINEMIA 1 (HALP1)
5
10
2
6
7
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

BPI1 - smart00328
BPI2 - smart00329


Swiss-Prot Protein: P11597
Identical to: NP_000069
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BPI1smart003288.3e-8131258
BPI2smart003296.8e-69274476

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34065661 Polymorphismp.ALA15GLYN/A
dbSNPrs5880 Polymorphismp.ALA390PRON/A
Swiss-ProtVAR_033100Diseasep.ARG299CYSHyperalphalipoproteinemia 1 (HALP1)
dbSNPrs1800777 Polymorphismp.ARG468GLNN/A
dbSNPrs34716057 Polymorphismp.ARG154TRPN/A
dbSNPrs2303790 Polymorphismp.ASP459GLYN/A
Swiss-ProtVAR_004172Diseasep.ASP459GLYHyperalphalipoproteinemia 1 (HALP1)
Swiss-ProtVAR_013919Polymorphismp.GLY331SERN/A
Swiss-ProtVAR_033099Diseasep.LEU168PROHyperalphalipoproteinemia 1 (HALP1)
dbSNPrs5882 Polymorphismp.VAL422ILEN/A
Swiss-ProtVAR_017019Polymorphismp.VAL385METN/A
Swiss-ProtVAR_031127Polymorphismp.VAL455METN/A
Swiss-ProtVAR_013923Polymorphismp.VAL486METN/A
OMIM118470.0002 Diseasep.ASP442GLYHYPERALPHALIPOPROTEINEMIA 1
OMIM118470.0004 Diseasep.ILE405VALHIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS||10



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258