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UniProtKB/Swiss-Prot P02656: Variant p.Lys78Glu

Apolipoprotein C-III
Gene: APOC3
Chromosomal location: 11q23-qter
Variant information

Variant position:  78
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Lysine (K) to Glutamate (E) at position 78 (K78E, p.Lys78Glu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (K) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Hyperalphalipoproteinemia 2 (HALP2) [MIM:614028]: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. {ECO:0000269|PubMed:2022742}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In HALP2.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  78
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  99
The length of the canonical sequence.

Location on the sequence:   QARGWVTDGFSSLKDYWSTV  K DKFSEFWDLDPEVRPTSAVA
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                         QA-RGWVTDGFSSLKDYWSTVKDKFSEFWDLD-PEVRPTSAVA

                              RA-RGWMTDSFSSLKDYCSTFKGKFTGFWDSA-SEAKPTPA

Mouse                         VA-RGWMDNHFRFLKGYWSKFTDKFTGFWDSN-PEDQPTPA

Rat                           VASRGWMDNRFKSLKGYWSKFTDKFTGLWESG-PEDQLTTP

Pig                           QA-RGWVTDSISSLKDYWSTFKGKFTDFWDYT-PKPEPSSS

Bovine                        QA-RDWMTESFSSLKDYWSSFKGKFTDFWESA-TSPTQSPP

Horse                         QA-RDWVNDGLSSLKDYWGKLKGKFSSFWDSTFEDTTPSPA

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.

TypePositionsDescription
Chain 21 – 99 Apolipoprotein C-III
Region 68 – 99 Lipid-binding
Glycosylation 94 – 94 O-linked (GalNAc...) threonine
Helix 69 – 80


Literature citations

Apolipoprotein C-III(Lys-58-->Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.
von Eckardstein A.; Holz H.; Sandkamp M.; Weng W.; Funke H.; Assmann G.;
J. Clin. Invest. 87:1724-1731(1991)
Cited for: VARIANT HALP2 GLU-78;

Disclaimer: 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.