UniProtKB/Swiss-Prot Q14114: Variant p.Asp46Glu

Low-density lipoprotein receptor-related protein 8
Gene: LRP8
Feedback?

Variant information Variant position:

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

LB/B 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 Aspartate (D) to Glutamate (E) at position 46 (D46E, p.Asp46Glu). 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 acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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
Other resources:

Links to websites of interest for the variant.

Variant rs3820198 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LQHLAAAAADPLLGGQGPAK D CEKDQFQCRNERCIPSVWRC 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                         LQHLAAAAADPLLGGQGPAKDCEKDQFQCRNERCIPSVWRC

Mouse                         LQHLS--AADPLPGGQGPVKECEEDQFRCRNERCIPLVWRC

Chicken                       KLYL----------GKGAMKECDKDQFQCRNERCIPAVWAC

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	33 – 963	Low-density lipoprotein receptor-related protein 8
Topological domain	42 – 826	Extracellular
Domain	46 – 82	LDL-receptor class A 1
Binding site	64 – 64

Literature citations
Human apolipoprotein E receptor 2. A novel lipoprotein receptor of the low density lipoprotein receptor family predominantly expressed in brain.
Kim D.-H.; Iijima H.; Goto K.; Sakai J.; Ishii H.; Kim H.-J.; Suzuki H.; Kondo H.; Saeki S.; Yamamoto T.;
J. Biol. Chem. 271:8373-8380(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-25 AND GLU-46; Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene.
Kim D.-H.; Magoori K.; Inoue T.R.; Mao C.C.; Kim H.-J.; Suzuki H.; Fujita T.; Endo Y.; Saeki S.; Yamamoto T.T.;
J. Biol. Chem. 272:8498-8504(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 4); VARIANTS ARG-25 AND GLU-46; Identification of a novel exon in apolipoprotein E receptor 2 leading to alternatively spliced mRNAs found in cells of the vascular wall but not in neuronal tissue.
Korschineck I.; Ziegler S.; Breuss J.; Lang I.; Lorenz M.; Kaun C.; Ambros P.F.; Binder B.R.;
J. Biol. Chem. 276:13192-13197(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS ARG-25 AND GLU-46; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 720-963 (ISOFORM 1); VARIANTS ARG-25 AND GLU-46; Low-density lipoprotein receptor-related protein 8 (apolipoprotein E receptor 2) gene polymorphisms in Alzheimer's disease.
Ma S.L.; Ng H.K.; Baum L.; Pang J.C.; Chiu H.F.; Woo J.; Tang N.L.; Lam L.C.;
Neurosci. Lett. 332:216-218(2002)
Cited for: VARIANTS GLU-46 AND GLN-952;

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.