Variant position: 224 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 VVVEATHMCMVMRGVQKMNS KTVTSTMLGVFREDPKTREEF
Mouse VVIEATHMCMVMRGVQKMNS KTVTSTMLGVFREDPKTREEF
Rat VVIEATHMCMVMRGVQKMNS KTVTSTMLGVFREDPKTREEF
Chicken VVIEATHMCMVMRGVQKMNS KTATSTMLGVFREDPKTREEF
Caenorhabditis elegans VVIEASHMCMVMRGVQKINA STTTSCMLGVFRDDPKTREEF
Drosophila VVVEGVHMCMVMRGVQKINS KTVTSTMLGVFRDDPKTREEF
Slime mold VVIEASHMCMVMRGVQKPGA STVTSSVCGIFEKDSRTRAEF
Baker's yeast VVMEASHMCMVSRGIQKTGS STVTSCMLGGFR-AHKTREEF
Fission yeast VVMEATHMCMVMRGVEKPGS STVTSSLTGIFQRSHKTREEF
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
210 – 250 Missing. In isoform GCH-3.
210 – 233 HMCMVMRGVQKMNSKTVTSTMLGV -> KSNKYNKGLSPLLSSCHLFVAILK. In isoform GCH-4.
214 – 250 Missing. In isoform GCH-2.
224 – 230
Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.
Bandmann O.; Nygaard T.G.; Surtess R.; Mardsen C.D.; Wood N.W.; Harding A.E.;
Hum. Mol. Genet. 5:403-406(1996)
Cited for: VARIANTS DRD PRO-88; PRO-153; ARG-203; ARG-224 AND SER-234;
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.
Furukawa Y.; Kish S.J.; Bebin E.M.; Jacobson R.D.; Fryburg J.S.; Wilson W.G.; Shimadzu M.; Hyland K.; Trugman J.M.;
Ann. Neurol. 44:10-16(1998)
Cited for: VARIANTS HPABH4B ASP-108; THR-221 AND ARG-224;
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
Leuzzi V.; Carducci C.; Carducci C.; Cardona F.; Artiola C.; Antonozzi I.;
Cited for: VARIANT DRD ARG-224;
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.