Variant position: 186 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 SKLARIVEIYSRRLQVQERL TKQIAVAITEALRPAGVGVVV
Mouse SKLARIVEIYSRRLQVQERL TKQIAVAITEALQPAGVGVVI
Rat SKLARIVEIYSRRLQVQERL TKQIAVAITEALQPAGVGVVI
Chicken SKLARIVEIYSRRLQVQERL TKQIAIAITEALQPAGVGVVI
Caenorhabditis elegans SKLARIVEMFSRRLQVQERL TKQIATAMVQAVQPSGVAVVI
Drosophila SKLARIVEIFSRRLQVQERL TKQIAVAVTQAVQPAGVAVVV
Slime mold SKLARVAEIFARRLQVQERL TRQIAQAIQAHLNPMGVAVVI
Baker's yeast SKLARLAEMYARRLQVQERL TKQIAMALSDILKPLGVAVVM
Fission yeast SKLARIANMFSRRLQVQERL TKQVAQAIQAVLKPQGVAVVM
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.
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;
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.