Variant position: 705 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 HQKLVFFAEDVGSNKGAIIG LMVGGVVIATVI-VITLVMLKK
Chimpanzee HQKLVFFAEDVGSNKGAIIG LMVGGVVIATVI-VITLVMLK
Mouse HQKLVFFAEDVGSNKGAIIG LMVGGVVIATVI-VITLVMLK
Rat HQKLVFFAEDVGSNKGAIIG LMVGGVVIATVI-VITLVMLK
Pig HQKLVFFAEDVGSNKGAIIG LMVGGVVIATVI-VITLVMLK
Caenorhabditis elegans HDKLIQSPEVERSASSVFQP YVLASAMFITAICIIAFAITN
Drosophila RREFAQHAHAAKEGRNVYFT LSFAGIALMAAV-FVGVAVAK
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 A4 protein
672 – 770 C99
672 – 713 Beta-amyloid protein 42
672 – 711 Beta-amyloid protein 40
688 – 770 C83
688 – 713 P3(42)
688 – 711 P3(40)
691 – 770 C80
700 – 723 Helical;
685 – 685 Copper or zinc 2
704 – 704 Implicated in free radical propagation
706 – 706 Susceptible to oxidation
697 – 697 O-linked (GalNAc...)
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 beta-APP42/total APP-beta ratio.
717 – 717 V -> FGI. Increased beta-APP42/beta-APP40 ratio.
717 – 717 V -> K. Decreased beta-APP42/total APP-beta ratio.
717 – 717 V -> M. Increased beta-APP42/beta-APP40 ratio. No change in apoptosis after caspase cleavage.
702 – 705
A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.
Obici L.; Demarchi A.; de Rosa G.; Bellotti V.; Marciano S.; Donadei S.; Arbustini E.; Palladini G.; Diegoli M.; Genovese E.; Ferrari G.; Coverlizza S.; Merlini G.;
Ann. Neurol. 58:639-644(2005)
Cited for: VARIANT CAA-APP VAL-705;
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.