UniProtKB/Swiss-Prot P04114: Variant p.Ile2313Val

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

2313 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 Isoleucine (I) to Valine (V) at position 2313 (I2313V, p.Ile2313Val). 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
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 rs584542 [ dbSNP | Ensembl ]

Sequence information Variant position:

2313 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:

DVRVLLDQLGTTISFERIND I LEHVKHFVINLIGDFEVAEK 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                         DVRVLLDQLGTTISFERINDILEHVKHFVINLIGDFEVAEK

Mouse                         DVTMHLDQLRTAILFQRISDIIDRVKYFVMNLIEDFKVTEK

Rat                           DVPMHLDQLRTAILFQRISVIIERVKYFVMNLIEDFKVTEK

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

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; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-2313 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; Structural comparison of human apolipoproteins B-48 and B-100.
Hardman D.A.; Protter A.A.; Chen G.C.; Schilling J.W.; Sato K.Y.; Lau K.; Yamanaka M.; Mikita T.; Miller J.; Crisp T.; McEnroe G.; Scarborough R.M.; Kane J.P.;
Biochemistry 26:5478-5486(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1671-2398; VARIANT VAL-2313;

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.