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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02649: Variant p.Glu31Lys

Apolipoprotein E
Gene: APOE
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Variant information Variant position: help 31 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glutamate (E) to Lysine (K) at position 31 (E31K, p.Glu31Lys). 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: help Change from medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In HLPP3; ApoE4 Philadelphia, ApoE5 French-Canadian and ApoE5-type; only ApoE4 Philadelphia is associated with HLPP3. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 31 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 317 The length of the canonical sequence.
Location on the sequence: help TFLAGCQAKVEQAVETEPEP E LRQQTEWQSGQRWELALGRF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TFLAGCQAKV------EQAVETEPEPELR---QQTEWQSGQRWELALGRF

Gorilla                       TFLAGCQAKV------EQAVETEPEPELH---QQAEWQSGQ

                              TLLAGCWADVQPEPELERELEPKVQQELE---PEAGWQTGQ

Rhesus macaque                TFLAGCQAKV------EQPVEPETEPELR---QQAEGQSGQ

Chimpanzee                    TFLAGCQAKV------EQVVETEPEPELH---QQAEWQSGQ

Mouse                         TLLTGCLAEG--------------EPEVT---DQLEWQSNQ

Rat                           PLLTGCLAEG--------------ELEVT---DQLPGQSDQ

Pig                           TLLAGCRTED------E----PGPPPEVHVWWEESKWQGSQ

Bovine                        ALLAGCQADM------EGELGPE-EPLTT---QQPRGKDSQ

Rabbit                        AILAGCRAQT------EQEV------EVP---EQARWKAGQ

Sheep                         ALLAGCQADM------EGELGSE-EPLPP---EQPRGQDSQ
Sequence annotation in neighborhood: help 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 19 – 317 Apolipoprotein E
Glycosylation 26 – 26 O-linked (GalNAc...) threonine
Glycosylation 36 – 36 O-linked (GalNAc...) threonine
Helix 31 – 39



Literature citations
Apolipoprotein E-4 Philadelphia (Glu-13-->Lys,Arg-145-->Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
Lohse P.; Mann W.A.; Stein E.A.; Brewer H.B. Jr.;
J. Biol. Chem. 266:10479-10484(1991)
Cited for: VARIANTS HLPP3 LYS-31 AND CYS-163; Characterization of a new apolipoprotein E5 variant detected in two French-Canadian subjects.
Mailly F.; Xu C.F.; Xhignesse M.; Lussier-Cacan S.; Talmud P.J.; Davignon J.; Humphries S.E.; Nestruck A.C.;
J. Lipid Res. 32:613-620(1991)
Cited for: VARIANT APOE5 FRENCH-CANADIAN LYS-31; Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels.
de Knijff P.; van den Maagdenberg A.M.J.M.; Frants R.R.; Havekes L.M.;
Hum. Mutat. 4:178-194(1994)
Cited for: REVIEW; VARIANTS LYS-31; ARG-102; ARG-130; GLN-152 AND CYS-154;
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.