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UniProtKB/Swiss-Prot P04114: Variant p.Ala618Val

Apolipoprotein B-100
Gene: APOB
Variant information

Variant position:  618
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 Alanine (A) to Valine (V) at position 618 (A618V, p.Ala618Val).
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 hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  618
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:   ANILNSEELDIQDLKKLVKE  A LKESQLPTVMDFRKFSRNYQ
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                         ANILNSEELDIQDLKKLVKEALKESQLPTVMDFRKFSRNYQ

Mouse                         ANILNSEELYVQDLKVLIKNALENSQFPTIMDFRKFSRNYQ

Rat                           ANILNSEELYVQDLKNLIKNALVNSRLPTIMDFRKFSRNYQ

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
Chain 28 – 2179 Apolipoprotein B-48
Domain 46 – 672 Vitellogenin


Literature citations

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;

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;

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.