UniProtKB/SwissProt variant VAR

GTP cyclohydrolase 1
Gene: GCH1
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Variant information Variant position:

88
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Tryptophan (W) at position 88 (R88W, p.Arg88Trp).
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score:

-3
Variant description:

In DRD.
Other resources:

Variant rs104894433 [ dbSNP | Ensembl ]

Sequence information Variant position:

88
Protein sequence length:

250
Location on the sequence:

LPNLAAAYSSILSSLGENPQ R QGLLKTPWRAASAMQFFTKG
Residue conservation:

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:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30793: Variant p.Arg88Trp