Results for the protein: P11597

Results for the Protein: P11597

71153497

1071

CETP

NCBI, UniProt

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 ↕
BPI2	smart00329	6.8e-69	274	476

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34065661	Polymorphism	p.ALA15GLY	N/A
dbSNP	rs5880	Polymorphism	p.ALA390PRO	N/A
Swiss-Prot	VAR_033100	Disease	p.ARG299CYS	Hyperalphalipoproteinemia 1 (HALP1)
dbSNP	rs1800777	Polymorphism	p.ARG468GLN	N/A
dbSNP	rs34716057	Polymorphism	p.ARG154TRP	N/A
dbSNP	rs2303790	Polymorphism	p.ASP459GLY	N/A
Swiss-Prot	VAR_004172	Disease	p.ASP459GLY	Hyperalphalipoproteinemia 1 (HALP1)
Swiss-Prot	VAR_013919	Polymorphism	p.GLY331SER	N/A
Swiss-Prot	VAR_033099	Disease	p.LEU168PRO	Hyperalphalipoproteinemia 1 (HALP1)
dbSNP	rs5882	Polymorphism	p.VAL422ILE	N/A
Swiss-Prot	VAR_017019	Polymorphism	p.VAL385MET	N/A
Swiss-Prot	VAR_031127	Polymorphism	p.VAL455MET	N/A
Swiss-Prot	VAR_013923	Polymorphism	p.VAL486MET	N/A
OMIM	118470.0002	Disease	p.ASP442GLY	HYPERALPHALIPOPROTEINEMIA 1
OMIM	118470.0004	Disease	p.ILE405VAL	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS\|\|10

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258