Variant position: 490 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:
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 LMEQIQDDCTGDEDYTYLIL RVIGNMGQTMEQLTPELKSSI
Mouse LLKQIDNECTGNEDHTFLIL RVIGNMGRTMEQVMPALKSSV
Rat LMKQIDNECMGDEDRTFLIL RVIGNMGRTMERVMPALKSSV
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
28 – 4563 Apolipoprotein B-100
28 – 2179 Apolipoprotein B-48
46 – 672 Vitellogenin
478 – 513
483 – 483 D -> N. Impairs protein secretion.
483 – 483 D -> Q. Does not affect protein secretion.
490 – 490 R -> A. Impairs protein secretion.
490 – 490 R -> K. Does not affect protein secretion.
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;
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.