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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30793: Variant p.Arg88Trp

GTP cyclohydrolase 1
Gene: GCH1
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Variant information Variant position: help 88
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 88 (R88W, p.Arg88Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In DRD.
Other resources: help


Sequence information Variant position: help 88
Protein sequence length: help 250
Location on the sequence: help LPNLAAAYSSILSSLGENPQ R QGLLKTPWRAASAMQFFTKG
Residue conservation: help
Human                         LPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKG

Mouse                         LPKLAAAYSSILLSLGEDPQRQGLLKTPWRAATAMQYFTKG

Rat                           LPNLAAAYSSILRSLGEDPQRQGLLKTPWRAATAMQFFTKG

Chicken                       LPSLAAAYTTILRALGEDPERQGLLKTPWRAATAMQFFTKG

Caenorhabditis elegans        LKSMCNAYQSIIQHVGEDINRQGLLKTPERAAKAMMAFTKG

Drosophila                    LPDMARSYRLLLGGLGENPDRQGLIKTPERAAKAMLYFTKG

Slime mold                    LNTMQSSVKTLLSSLGEDPDREGLLKTPLRMSKALLFFTQG

Baker's yeast                 IQRISGAIKTILTELGEDVNREGLLDTPQRYAKAMLYFTKG

Fission yeast                 VKKISNAISTILECLGEDPERQGLLGTPERYAKAMLYFTKG

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 250 GTP cyclohydrolase 1
Modified residue 81 – 81 Phosphoserine
Beta strand 86 – 88



Literature citations
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
Ichinose H.; Ohye T.; Takahashi E.; Seki N.; Hori T.; Segawa M.; Nomura Y.; Endo K.; Tanaka H.; Tsuji S.; Fujita K.; Nagatsu T.;
Nat. Genet. 8:236-242(1994)
Cited for: VARIANTS DRD TRP-88; VAL-134 AND GLU-201;
Disclaimer: 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.