Variant position: 780 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 DISGAMEFSLWYRESKTRVK NRVTVVITTDITVDSSFVKAG
Mouse DISGSMEFSLWYRESKTRVK NRVAVVITSDVTVDASFVKAG
Pig DISGSMEFSLWYRESKTRVK NRVTVVITGDITVDSSFVKAG
Zebrafish DISGGMEFSLWYRESKTSVN NRGALVIIGNMTVDTDFVSAG
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
152 – 894 Missing. In isoform 2.
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
Khatun I.; Walsh M.T.; Hussain M.M.;
J. Lipid Res. 54:1541-1549(2013)
Cited for: FUNCTION; INTERACTION WITH P4HB; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS ABL HIS-540; ILE-590; GLU-746 AND TYR-780; CHARACTERIZATION OF VARIANT ALA-384;
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
Ohashi K.; Ishibashi S.; Osuga J.; Tozawa R.; Harada K.; Yahagi N.; Shionoiri F.; Iizuka Y.; Tamura Y.; Nagai R.; Illingworth D.R.; Gotoda T.; Yamada N.;
J. Lipid Res. 41:1199-1204(2000)
Cited for: VARIANT ABL TYR-780;
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