UniProtKB/Swiss-Prot P02649: Variant p.Leu46Pro

Apolipoprotein E
Gene: APOE
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Variant information Variant position:

46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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:

From Leucine (L) to Proline (P) at position 46 (L46P, p.Leu46Pro). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

Found in a patient with hypercholesterolemia; uncertain significance; ApoE4 Freiburg. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs769452 [ dbSNP | Ensembl ]

Sequence information Variant position:

46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

317 The length of the canonical sequence.
Location on the sequence:

TEPEPELRQQTEWQSGQRWE L ALGRFWDYLRWVQTLSEQVQ 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                         TEPEPELR---QQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQ

Gorilla                       TEPEPELH---QQAEWQSGQRWELALGRFWDYLRWVQTLSE

                              PKVQQELE---PEAGWQTGQPWEAALARFWDYLRWVQTLSD

Rhesus macaque                PETEPELR---QQAEGQSGQPWELALGRFWDYLRWVQTLSE

Chimpanzee                    TEPEPELH---QQAEWQSGQRWELALGHFWDYLRWVQTLSE

Mouse                         ---EPEVT---DQLEWQSNQPWEQALNRFWDYLRWVQTLSD

Rat                           ---ELEVT---DQLPGQSDQPWEQALNRFWDYLRWVQTLSD

Pig                           PGPPPEVHVWWEESKWQGSQPWEQALGRFWDYLRWVQSLSD

Bovine                        PE-EPLTT---QQPRGKDSQPWEQALGRFWDYLRWVQTLSD

Rabbit                        -----EVP---EQARWKAGQPWELALGRFWDYLRWVQSLSD

Sheep                         SE-EPLPP---EQPRGQDSQPWEQVLGRLWDYLRWVQTLSD

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
Chain	19 – 317	Apolipoprotein E
Glycosylation	26 – 26	O-linked (GalNAc...) threonine
Glycosylation	36 – 36	O-linked (GalNAc...) threonine
Helix	43 – 60

Literature citations
Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene.
Nickerson D.A.; Taylor S.L.; Fullerton S.M.; Weiss K.M.; Clark A.G.; Stengard J.H.; Salomaa V.; Boerwinkle E.; Sing C.F.;
Genome Res. 10:1532-1545(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE APOE*3); VARIANTS PRO-46; ARG-130; CYS-163 AND CYS-176; Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
Wintjens R.; Bozon D.; Belabbas K.; Mbou F.; Girardet J.P.; Tounian P.; Jolly M.; Boccara F.; Cohen A.; Karsenty A.; Dubern B.; Carel J.C.; Azar-Kolakez A.; Feillet F.; Labarthe F.; Gorsky A.M.; Horovitz A.; Tamarindi C.; Kieffer P.; Lienhardt A.; Lascols O.; Di Filippo M.; Dufernez F.;
J. Lipid Res. 57:482-491(2016)
Cited for: VARIANTS PRO-46 AND ASP-145; VARIANT HLPP3 CYS-163; VARIANT SBHD LEU-167 DEL;

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.