Variant position: 297 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 IKAVDSKYTAIPIVGQVFQS HCKGCPSLSELWRSTRKYLQP
Mouse IKAVDSKYKAIPIVGQVLER VCKGCPSLAEHWKSIRKNLEP
Rat IKAIDSKYKAIPIVGQVLQS VCKGCPSLAEHWQSIRKHLEP
Pig IKAVDSKYTAIPIVGQVFQS ECKGCSSLSQHWQSVRKHLQP
Zebrafish VKALDDKFLSVGVIVEKTKP KCKGCPNLMETWKAVRSQLEP
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
152 – 894 Missing. In isoform 2.
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
Rehberg E.F.; Samson-Bouma M.-E.; Kienzle B.; Blinderman L.; Jamil H.; Wetterau J.R.; Aggerbeck L.P.; Gordon D.A.;
J. Biol. Chem. 271:29945-29952(1996)
Cited for: VARIANT ABL HIS-540; VARIANTS GLN-297 AND ALA-384; CHARACTERIZATION OF VARIANT ABL HIS-540; CHARACTERIZATION OF VARIANTS GLN-297 AND ALA-384; MUTAGENESIS OF ARG-540; FUNCTION; INVOLVEMENT IN ABL;
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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