Variant position: 211 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 VAITEALRPAGVGVVVEATH MCMVMRGVQKMNSKTVTSTML
Mouse VAITEALQPAGVGVVIEATH MCMVMRGVQKMNSKTVTSTML
Rat VAITEALQPAGVGVVIEATH MCMVMRGVQKMNSKTVTSTML
Chicken IAITEALQPAGVGVVIEATH MCMVMRGVQKMNSKTATSTML
Caenorhabditis elegans TAMVQAVQPSGVAVVIEASH MCMVMRGVQKINASTTTSCML
Drosophila VAVTQAVQPAGVAVVVEGVH MCMVMRGVQKINSKTVTSTML
Slime mold QAIQAHLNPMGVAVVIEASH MCMVMRGVQKPGASTVTSSVC
Baker's yeast MALSDILKPLGVAVVMEASH MCMVSRGIQKTGSSTVTSCML
Fission yeast QAIQAVLKPQGVAVVMEATH MCMVMRGVEKPGSSTVTSSLT
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.
210 – 213 HMCM -> SAEP. In isoform GCH-2.
211 – 214
Dopa-responsive dystonia: a clinical and molecular genetic study.
Bandmann O.; Valente E.M.; Holmans P.; Surtees R.A.; Walters J.H.; Wevers R.A.; Marsden C.D.; Wood N.W.;
Ann. Neurol. 44:649-656(1998)
Cited for: VARIANTS DRD GLN-71; VAL-74; ALA-83; ILE-191; VAL-211 AND TRP-241;
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.