Variant position: 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 140 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 VAEAAGKTKEGVLYVGSKTK EGVVHGVATVAEKTKEQVTNV
Gorilla VAEAAGKTKEGVLYVGSKTK EGVVHGVATVAEKTKEQVTNV
Rhesus macaque VAEAAGKTKEGVLYVGSKTK EGVVHGVATVAEKTKEQVTNV
Chimpanzee VAEAAGKTKEGVLYVGSKTK EGVVHGVATVAEKTKEQVTNV
Mouse VAEAAGKTKEGVLYVGSKTK EGVVHGVTTVAEKTKEQVTNV
Rat VAEAAGKTKEGVLYVGSKTK EGVVHGVTTVAEKTKEQVTNV
Bovine VAEAAGRTKEGVLYVGSKTK EGVVHGVTTVAEKTKEQVTNV
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
1 – 140 Alpha-synuclein
42 – 56 3; approximate
20 – 67 4 X 11 AA tandem repeats of [EGS]-K-T-K-[EQ]-[GQ]-V-X(4)
50 – 50 Copper
41 – 54 Missing. In isoform 2-5.
39 – 39 Y -> F. No effect on osmotic stress-induced phosphorylation.
50 – 50 H -> A. Impairs copper-binding.
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
Zarranz J.J.; Alegre J.; Gomez-Esteban J.C.; Lezcano E.; Ros R.; Ampuero I.; Vidal L.; Hoenicka J.; Rodriguez O.; Atares B.; Llorens V.; Gomez Tortosa E.; del Ser T.; Munoz D.G.; de Yebenes J.G.;
Ann. Neurol. 55:164-173(2004)
Cited for: VARIANT PARK1/DLB LYS-46;
Mutation E46K increases phospholipid binding and assembly into filaments of human alpha-synuclein.
Choi W.; Zibaee S.; Jakes R.; Serpell L.C.; Davletov B.; Crowther R.A.; Goedert M.;
FEBS Lett. 576:363-368(2004)
Cited for: CHARACTERIZATION OF VARIANT LYS-46;
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