UniProtKB/Swiss-Prot P04114: Variant p.Thr3427Lys

Apolipoprotein B-100
Gene: APOB
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Variant information Variant position:

3427 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 Threonine (T) to Lysine (K) at position 3427 (T3427K, p.Thr3427Lys). 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 medium size and polar (T) to large size and basic (K) 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
Polymorphism:

Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:615558]. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1042022 [ dbSNP | Ensembl ]

Sequence information Variant position:

3427 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

4563 The length of the canonical sequence.
Location on the sequence:

EGSHNSTVSLTTKNMEVSVA T TTKAQIPILRMNFKQELNGN 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                         EGSHNSTVSLTTKNMEVSVATTTKAQIPILRMNFKQELNGN

Mouse                         KGSHDSTISLTKKNMEASVRTTANLHAPIFSMNFKQELNGN

Rat                           KGSHDSTISLTKKNMEASVKTTANLHAPIFTMNFKQELNGN

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	28 – 4563	Apolipoprotein B-100
Region	3383 – 3516	Heparin-binding
Glycosylation	3411 – 3411	N-linked (GlcNAc...) asparagine

Literature citations
Complete cDNA and derived protein sequence of human apolipoprotein B-100.
Knott T.C.; Wallis S.C.; Powell L.M.; Pease R.J.; Lusis A.J.; Blackhart B.; McCarthy B.J.; Mahley R.W.; Levy-Wilson B.; Scott J.;
Nucleic Acids Res. 14:7501-7503(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ASN-273; GLU-1218; VAL-2092; VAL-2313; THR-2365; GLN-2680; HIS-3319; LYS-3427; GLU-3432; THR-3732; LEU-3949; PHE-3964; LYS-4181 AND ASN-4338; DNA sequence of the human apolipoprotein B gene.
Ludwig E.H.; Blackhart B.D.; Pierotti V.R.; Caiati L.; Fortier C.; Knott T.; Scott J.; Mahley R.W.; Levy-Wilson B.; McCarthy B.J.;
DNA 6:363-372(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-2313; HIS-3319; LYS-3427; GLU-3432 AND ASN-4338; The complete cDNA and amino acid sequence of human apolipoprotein B-100.
Chen S.-H.; Yang C.-Y.; Chen P.-F.; Setzer D.; Tanimura M.; Li W.-H.; Gotto A.M. Jr.; Chan L.;
J. Biol. Chem. 261:12918-12921(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ILE-98; VAL-618; VAL-2313; HIS-3319; LYS-3427; GLU-3432 AND ASN-4338; Human liver apolipoprotein B-100 cDNA: complete nucleic acid and derived amino acid sequence.
Law S.W.; Grant S.M.; Higuchi K.; Hospattankar A.V.; Lackner K.J.; Lee N.; Brewer H.B. Jr.;
Proc. Natl. Acad. Sci. U.S.A. 83:8142-8146(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ASN-2037; VAL-2313; HIS-3319; LYS-3427; GLU-3432; LEU-3949; LYS-4181 AND ASN-4338; The complete sequence and structural analysis of human apolipoprotein B-100: relationship between apoB-100 and apoB-48 forms.
Cladaras C.; Hadzopoulou-Cladaras M.; Nolte R.T.; Atkinson D.; Zannis V.I.;
EMBO J. 5:3495-3507(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-40; VARIANTS VAL-618; VAL-2313; HIS-3319; LYS-3427; GLU-3432; THR-3732; LEU-3949; PHE-3964; LYS-4181 AND ASN-4338; Analysis of the human apolipoprotein B gene; complete structure of the B-74 region.
Carlsson P.; Darnfors C.; Olofsson S.O.; Bjursell G.;
Gene 49:29-51(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1282-4503; VARIANTS VAL-2313; HIS-3319; LYS-3427; GLU-3432; THR-3732 AND ASN-4338; Human apolipoprotein B: structure of carboxyl-terminal domains, sites of gene expression, and chromosomal localization.
Knott T.J.; Rall S.C. Jr.; Innerarity T.L.; Jacobson S.F.; Urdea M.S.; Levy-Wilson B.; Powell L.M.; Pease R.J.; Eddy R.; Nakai H.; Byers M.; Priestley L.M.; Robertson E.; Rall L.B.; Betsholtz C.; Shows T.B.; Mahley R.W.; Scott J.;
Science 230:37-43(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3109-4563; VARIANTS HIS-3319; LYS-3427; GLU-3432; THR-3732; LEU-3949; PHE-3964; LYS-4181 AND ASN-4338; Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia.
Leren T.P.; Bakken K.S.; Hoel V.; Hjermann I.; Berg K.;
Hum. Genet. 102:44-49(1998)
Cited for: VARIANTS SER-1914; ARG-1923; LEU-2739; HIS-3319; LYS-3427; GLU-3432 AND ILE-3921;

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.