Variant position: 201 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 250 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 VQERLTKQIAVAITEALRPA GVGVVVEATHMCMVMRGVQKM
Mouse VQERLTKQIAVAITEALQPA GVGVVIEATHMCMVMRGVQKM
Rat VQERLTKQIAVAITEALQPA GVGVVIEATHMCMVMRGVQKM
Chicken VQERLTKQIAIAITEALQPA GVGVVIEATHMCMVMRGVQKM
Caenorhabditis elegans VQERLTKQIATAMVQAVQPS GVAVVIEASHMCMVMRGVQKI
Drosophila VQERLTKQIAVAVTQAVQPA GVAVVVEGVHMCMVMRGVQKI
Slime mold VQERLTRQIAQAIQAHLNPM GVAVVIEASHMCMVMRGVQKP
Baker's yeast VQERLTKQIAMALSDILKPL GVAVVMEASHMCMVSRGIQKT
Fission yeast VQERLTKQVAQAIQAVLKPQ GVAVVMEATHMCMVMRGVEKP
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 – 250 GTP cyclohydrolase 1
212 – 212 Zinc
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
Ichinose H.; Ohye T.; Takahashi E.; Seki N.; Hori T.; Segawa M.; Nomura Y.; Endo K.; Tanaka H.; Tsuji S.; Fujita K.; Nagatsu T.;
Nat. Genet. 8:236-242(1994)
Cited for: VARIANTS DRD TRP-88; VAL-134 AND GLU-201;
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
Tassin J.; Duerr A.; Bonnet A.-M.; Gil R.; Vidailhet M.; Luecking C.B.; Goas J.-Y.; Durif F.; Abada M.; Echenne B.; Motte J.; Lagueny A.; Lacomblez L.; Jedynak P.; Bartholome B.; Agid Y.; Brice A.;
Cited for: VARIANTS DRD ALA-83; 88-ARG-GLN-89 DEL; SER-178; ARG-180; LEU-199 AND GLU-201;
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