Variant position: 108 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 RQGLLKTPWRAASAMQFFTK GYQETI-SDVLNDAIFDEDHDE
Mouse RQGLLKTPWRAATAMQYFTK GYQETI-SDVLNDAIFDEDHD
Rat RQGLLKTPWRAATAMQFFTK GYQETI-SDVLNDAIFDEDHD
Chicken RQGLLKTPWRAATAMQFFTK GYQETI-ADVLNDAIFDEDHD
Caenorhabditis elegans RQGLLKTPERAAKAMMAFTK GYDDQL-DELLNEAVFDEDHD
Drosophila RQGLIKTPERAAKAMLYFTK GYDQSL-EDVLNGAVFDEDHD
Slime mold REGLLKTPLRMSKALLFFTQ GYEQSV-DEVIGEAIFNENHH
Baker's yeast REGLLDTPQRYAKAMLYFTK GYQTNIMDDVIKNAVFEEDHD
Fission yeast RQGLLGTPERYAKAMLYFTK GYEQNL-TEVINEAVFQEDHE
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.
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;
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.