Variant position: 128 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 894 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 SKIMGKENLEALQRPTLLHL IHGKVKEFYSYQNEAVAIENI
Mouse PKIIGKDNLEALQRPMLLHL VRGKVKEFYSYENEPVGIENL
Rat PKIVGKDNLEALRRPMLLHL VRGKVKEFYSYENEPVGIENL
Pig PQIIRKENLEALQRPVLLHL IHGKVKEFYSYQNEPPAIQNL
Zebrafish ESILGKVRLEALQRPFLVLW KMGKIRSLYAQKAEPATVKNL
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
19 – 894 Microsomal triglyceride transfer protein large subunit
28 – 659 Vitellogenin
Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index.
Ledmyr H.; Karpe F.; Lundahl B.; McKinnon M.; Skoglund-Andersson C.; Ehrenborg E.;
J. Lipid Res. 43:51-58(2002)
Cited for: VARIANTS HIS-95; THR-128; GLU-244 AND GLN-297;
Hypobetalipoproteinemia with an apparently recessive inheritance due to a 'de novo' mutation of apolipoprotein B.
Lancellotti S.; Di Leo E.; Penacchioni J.Y.; Balli F.; Viola L.; Bertolini S.; Calandra S.; Tarugi P.;
Biochim. Biophys. Acta 1688:61-67(2004)
Cited for: VARIANTS THR-128; ILE-168 AND GLN-297;
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