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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P55157: Variant p.Ile128Thr

Microsomal triglyceride transfer protein large subunit
Gene: MTTP
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Variant information Variant position: help 128 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Isoleucine (I) to Threonine (T) at position 128 (I128T, p.Ile128Thr). 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 medium size and hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 128 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 894 The length of the canonical sequence.
Location on the sequence: help SKIMGKENLEALQRPTLLHL I HGKVKEFYSYQNEAVAIENI 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                         SKIMGKENLEALQRPTLLHLIHG--KVKEFYSYQNEAVAIENI

Mouse                         PKIIGKDNLEALQRPMLLHLVRG--KVKEFYSYENEPVGIE

Rat                           PKIVGKDNLEALRRPMLLHLVRG--KVKEFYSYENEPVGIE

Pig                           PQIIRKENLEALQRPVLLHLIHG--KVKEFYSYQNEPPAIQ

Zebrafish                     ESILGKVRLEALQRPFLVLWKMG--KIRSLYAQKAEPATVK

Caenorhabditis elegans        --------------PIYIAFRQGGNNAEHILKASDESDATW

Drosophila                    -----------PDRPFYISLVRG--QPDKVIAHTSKDQSLL

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 19 – 894 Microsomal triglyceride transfer protein large subunit
Domain 28 – 659 Vitellogenin
Beta strand 123 – 128



Literature citations
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;
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.