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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04114: Variant p.Arg490Trp

Apolipoprotein B-100
Gene: APOB
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Variant information Variant position: help 490 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Tryptophan (W) at position 490 (R490W, p.Arg490Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In FHBL1; reduced protein secretion. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 490 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 4563 The length of the canonical sequence.
Location on the sequence: help LMEQIQDDCTGDEDYTYLIL R VIGNMGQTMEQLTPELKSSI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LMEQIQDDCTGDEDYTYLILRVIGNMGQTMEQLTPELKSSI

Mouse                         LLKQIDNECTGNEDHTFLILRVIGNMGRTMEQVMPALKSSV

Rat                           LMKQIDNECMGDEDRTFLILRVIGNMGRTMERVMPALKSSV
Sequence annotation in neighborhood: help 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
Disulfide bond 478 – 513
Mutagenesis 483 – 483 D -> N. Impairs protein secretion.
Mutagenesis 483 – 483 D -> Q. Does not affect protein secretion.
Mutagenesis 490 – 490 R -> A. Impairs protein secretion.
Mutagenesis 490 – 490 R -> K. Does not affect protein secretion.



Literature citations
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
Burnett J.R.; Shan J.; Miskie B.A.; Whitfield A.J.; Yuan J.; Tran K.; McKnight C.J.; Hegele R.A.; Yao Z.;
J. Biol. Chem. 278:13442-13452(2003)
Cited for: VARIANT FHBL1 TRP-490; VARIANT ILE-98; CHARACTERIZATION OF VARIANT TRP-490; MUTAGENESIS OF ASP-483 AND ARG-490;
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.