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UniProtKB/Swiss-Prot P04114: Variant p.Ser4338Asn

Apolipoprotein B-100
Gene: APOB
Chromosomal location: 2p23-p24
Variant information

Variant position:  4338
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Asparagine (N) at position 4338 (S4338N, p.Ser4338Asn).
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 small size and polar (S) to medium size and polar (N)
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:107730].
Additional information on the polymorphism described.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  4338
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:   KEMKFTYLINYIQDEINTIF  S DYIPYVFKLLKENLCLNLHK
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                         KEMKFTYLINYIQDEINTIFSDYIPYVFKLLKENLCLNLHK

Mouse                         KDNEST----CVADHINMVFKIQVPYAFKSLREDIYFVLGE

Rat                           KNNEST----CVPDHINMFFKTHIPFAFKSLRENIYSVFSE

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.

TypePositionsDescription
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; CYS-1422; RP 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 CYS-1422; 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; CYS-1422; 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 CYS-1422; 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; CYS-1422; 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 CYS-1422; 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 CYS-1422; 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;

Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100.
Wei C.F.; Chen S.H.; Yang C.Y.; Marcel Y.L.; Milne R.W.; Li W.H.; Sparrow J.T.; Gotto A.M. Jr.; Chan L.;
Proc. Natl. Acad. Sci. U.S.A. 82:7265-7269(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3728-4563; VARIANT ASN-4338;

Detection by denaturing gradient gel electrophoresis of a new polymorphism in the apolipoprotein B gene.
Navajas M.; Laurent A.-M.; Moreel J.-F.; Ragab A.; Cambou J.-P.; Cunny G.; Cambien F.; Roizes G.;
Hum. Genet. 86:91-93(1990)
Cited for: VARIANT ASN-4338;

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
Huijgen R.; Sjouke B.; Vis K.; de Randamie J.S.; Defesche J.C.; Kastelein J.J.; Hovingh G.K.; Fouchier S.W.;
Hum. Mutat. 33:448-455(2012)
Cited for: VARIANTS 12-LEU--LEU-14 DEL; ILE-98; VAL-618; ILE-730; THR-1613; ARG-1923; LYS-2566; LEU-2739; GLN-3638; LEU-3835; LYS-4181; THR-4270; VAL-4314; ASN-4338; THR-4481 AND VAL-4482;

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.