Variant position: 98 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 ILSSLGENPQRQGLLKTPWR AASAMQFFTKGYQETI-SDVLN
Mouse ILLSLGEDPQRQGLLKTPWR AATAMQYFTKGYQETI-SDVL
Rat ILRSLGEDPQRQGLLKTPWR AATAMQFFTKGYQETI-SDVL
Chicken ILRALGEDPERQGLLKTPWR AATAMQFFTKGYQETI-ADVL
Caenorhabditis elegans IIQHVGEDINRQGLLKTPER AAKAMMAFTKGYDDQL-DELL
Drosophila LLGGLGENPDRQGLIKTPER AAKAMLYFTKGYDQSL-EDVL
Slime mold LLSSLGEDPDREGLLKTPLR MSKALLFFTQGYEQSV-DEVI
Baker's yeast ILTELGEDVNREGLLDTPQR YAKAMLYFTKGYQTNIMDDVI
Fission yeast ILECLGEDPERQGLLGTPER YAKAMLYFTKGYEQNL-TEVI
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
81 – 81 Phosphoserine
94 – 102
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
Cai C.; Shi W.; Zeng Z.; Zhang M.; Ling C.; Chen L.; Cai C.; Zhang B.; Li W.D.;
PLoS ONE 8:E65215-E65215(2013)
Cited for: VARIANTS CYS-75; VAL-98 AND THR-135;
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.