Variant position: 299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 493 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human YFWFSERVFHSLAKVAFQDG RLMLSLMGDEFKAVLETWGFN
Chicken YFWISEHILNSLASAAFLDG RLVLAIRGEKLQALFEFEDTE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
18 – 493 Cholesteryl ester transfer protein
251 – 310 Missing. In isoform 2.
282 – 282 F -> R. Not secreted.
287 – 287 F -> R. Not secreted.
309 – 309 F -> D. Not secreted.
313 – 313 L -> Q. Reduces cholesteryl ester transfer by 60%.
Two novel missense mutations in the CETP gene in Japanese hyperalphalipoproteinemic subjects: high-throughput assay by Invader assay.
Nagano M.; Yamashita S.; Hirano K.; Ito M.; Maruyama T.; Ishihara M.; Sagehashi Y.; Oka T.; Kujiraoka T.; Hattori H.; Nakajima N.; Egashira T.; Kondo M.; Sakai N.; Matsuzawa Y.;
J. Lipid Res. 43:1011-1018(2002)
Cited for: VARIANTS HALP1 PRO-168 AND CYS-299; CHARACTERIZATION OF VARIANTS HALP1 PRO-168 AND CYS-299;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.