Variant position: 717 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 770 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 SNKGAIIGLMVGGVVIATVI- VITLVMLKKKQYTSIH-HGVVE
Chimpanzee SNKGAIIGLMVGGVVIATVI- VITLVMLKKKQYTSIH-HGV
Mouse SNKGAIIGLMVGGVVIATVI- VITLVMLKKKQYTSIH-HGV
Rat SNKGAIIGLMVGGVVIATVI- VITLVMLKKKQYTSIH-HGV
Pig SNKGAIIGLMVGGVVIATVI- VITLVMLKKKQYTSIH-HGV
Caenorhabditis elegans SASSVFQPYVLASAMFITAIC IIAFAITNARRRRAM--RGF
Drosophila EGRNVYFTLSFAGIALMAAV- FVGVAVAKWRTSRSPHAQGF
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
18 – 770 Amyloid-beta precursor protein
672 – 770 C99
688 – 770 C83
691 – 770 C80
712 – 770 Gamma-secretase C-terminal fragment 59
714 – 770 Gamma-secretase C-terminal fragment 57
702 – 722 Helical
695 – 722 Interaction with PSEN1
704 – 704 Implicated in free radical propagation
706 – 706 Susceptible to oxidation
729 – 729 Phosphothreonine
730 – 730 Phosphoserine; by APP-kinase I
306 – 770 Missing. In isoform APP305.
704 – 704 G -> V. Reduced protein oxidation. No hippocampal neuron toxicity.
706 – 706 M -> L. Reduced lipid peroxidation inhibition.
706 – 706 M -> V. No free radical production. No hippocampal neuron toxicity.
717 – 717 V -> CS. Unchanged amyloid-beta protein 42/total amyloid-beta ratio.
717 – 717 V -> K. Decreased amyloid-beta protein 42/total amyloid-beta ratio.
717 – 717 V -> M. Increased amyloid-beta protein 42/40 ratio. No change in apoptosis after caspase cleavage.
728 – 728 Y -> A. No effect on APBA1 nor APBB1 binding. Greatly reduces the binding to APPBP2. APP internalization unchanged. No change in amyloid-beta protein 42 secretion.
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
Murrell J.R.; Hake A.M.; Quaid K.A.; Farlow M.R.; Ghetti B.;
Arch. Neurol. 57:885-887(2000)
Cited for: VARIANT AD1 LEU-717;
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.