Variant position: 178 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 PNKQVLGLSKLARIVEIYSR RLQVQERLTKQIAVAITEALR
Mouse PNKQVLGLSKLARIVEIYSR RLQVQERLTKQIAVAITEALQ
Rat PNKQVLGLSKLARIVEIYSR RLQVQERLTKQIAVAITEALQ
Chicken PNKQVLGLSKLARIVEIYSR RLQVQERLTKQIAIAITEALQ
Caenorhabditis elegans PNKKVLGLSKLARIVEMFSR RLQVQERLTKQIATAMVQAVQ
Drosophila PCNKILGLSKLARIVEIFSR RLQVQERLTKQIAVAVTQAVQ
Slime mold PDQKVLGLSKLARVAEIFAR RLQVQERLTRQIAQAIQAHLN
Baker's yeast PNKKVIGLSKLARLAEMYAR RLQVQERLTKQIAMALSDILK
Fission yeast PRKRVLGLSKLARIANMFSR RLQVQERLTKQVAQAIQAVLK
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
177 – 180
A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.
Beyer K.; Lao-Villadoniga J.I.; Vecino-Bilbao B.; Cacabelos R.; de la Fuent-Fernandez R.;
J. Neurol. Neurosurg. Psych. 62:420-421(1997)
Cited for: VARIANT DRD SER-178;
Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.
Suzuki T.; Ohye T.; Inagaki H.; Nagatsu T.; Ichinose H.;
J. Neurochem. 73:2510-2516(1999)
Cited for: VARIANTS DRD ARG-102; LYS-102; ARG-141; TRP-141; THR-176; SER-178 AND LYS-186;
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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