Variant position: 435 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 FKGSIGSSDIRETVMIITGT LVRKLCQNEGCKLKAVVEAKK
Mouse FKGSFASNDIRESVMIIIGA LVRKLCQNEGCKLKAVVEAKK
Pig FKGSFGSNDIRESVMIIIGA LVRKLCQNEGCKLKAVVDAKK
Zebrafish SQGKIGSTEIKESVVIIMGA LLRKLCLKGACDLPAVLKVKE
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.
435 – 435 L -> E. No loss on localization to the endoplasmic reticulum. Inhibits triglyceride transfer activity.
435 – 435 L -> V. No loss on localization to the endoplasmic reticulum. Does not inhibit triglyceride transfer activity.
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
Di Filippo M.; Crehalet H.; Samson-Bouma M.E.; Bonnet V.; Aggerbeck L.P.; Rabes J.P.; Gottrand F.; Luc G.; Bozon D.; Sassolas A.;
J. Lipid Res. 53:548-555(2012)
Cited for: VARIANT ABL HIS-435; CHARACTERIZATION OF VARIANT ABL HIS-435; FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF LEU-435;
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.