Variant position: 540 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 VKKTLNRIYHQNRKVHEKTV RTAAAAIILNNNPSYMDVKNI
Mouse VKKTLNRIYHQNRKVHEKTV RTTAAAVILK-NPSYMDVKNI
Pig VKKTMNRIYHQTRKVHEKTV RTTAAAVILNNNPSYMEVKNI
Zebrafish VKKALNRIYHQNQRIYEKNV RAAAADVIMSSNPSYMEVKNL
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.
528 – 528 Y -> F. Does not inhibit triglyceride transfer activity.
528 – 528 Y -> K. Inhibits triglyceride transfer activity.
540 – 540 R -> A. Strongly reduces triglyceride transfer activity.
540 – 540 R -> K. Does not inhibit triglyceride transfer activity and apolipoprotein B secretion.
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;
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 VARIANT ABL HIS-540; CHARACTERIZATION VARIANTS GLN-297 AND ALA-384; MUTAGENESIS OF ARG-540; FUNCTION; INVOLVEMENT IN ABL;
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
Wang J.; Hegele R.A.;
Hum. Mutat. 15:294-295(2000)
Cited for: VARIANTS ABL HIS-540; ILE-590 AND GLU-746;
Novel missense MTTP gene mutations causing abetalipoproteinemia.
Miller S.A.; Burnett J.R.; Leonis M.A.; McKnight C.J.; van Bockxmeer F.M.; Hooper A.J.;
Biochim. Biophys. Acta 1842:1548-1554(2014)
Cited for: VARIANTS ABL ARG-264; HIS-528; CYS-540 AND SER-649; CHARACTERIZATION OF VARIANTS ABL ARG-264; HIS-528; CYS-540; HIS-540 AND SER-649; FUNCTION; INTERACTION WITH APOB AND P4HB; MUTAGENESIS OF TYR-528;
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.