Variant position: 50 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 AGKTKEGVLYVGSKTKEGVV HGVATVAEKTKEQVTNVGGAV
Gorilla AGKTKEGVLYVGSKTKEGVV HGVATVAEKTKEQVTNVGGAV
Rhesus macaque AGKTKEGVLYVGSKTKEGVV HGVATVAEKTKEQVTNVGGAV
Chimpanzee AGKTKEGVLYVGSKTKEGVV HGVATVAEKTKEQVTNVGGAV
Mouse AGKTKEGVLYVGSKTKEGVV HGVTTVAEKTKEQVTNVGGAV
Rat AGKTKEGVLYVGSKTKEGVV HGVTTVAEKTKEQVTNVGGAV
Bovine AGRTKEGVLYVGSKTKEGVV HGVTTVAEKTKEQVTNVGEAV
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.
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
Appel-Cresswell S.; Vilarino-Guell C.; Encarnacion M.; Sherman H.; Yu I.; Shah B.; Weir D.; Thompson C.; Szu-Tu C.; Trinh J.; Aasly J.O.; Rajput A.; Rajput A.H.; Jon Stoessl A.; Farrer M.J.;
Mov. Disord. 28:811-813(2013)
Cited for: VARIANT PARK1 GLN-50;
A novel alpha-synuclein missense mutation in Parkinson disease.
Proukakis C.; Dudzik C.G.; Brier T.; MacKay D.S.; Cooper J.M.; Millhauser G.L.; Houlden H.; Schapira A.H.;
Cited for: VARIANT PARK1 GLN-50; CHARACTERIZATION OF VARIANT PARK1 GLN-50;
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