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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30793: Variant p.Ile135Lys

GTP cyclohydrolase 1
Gene: GCH1
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Variant information Variant position: help 135
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Lysine (K) at position 135 (I135K, p.Ile135Lys).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to large size and basic (K)
BLOSUM score: help -3
Variant description: help In DRD.
Other resources: help


Sequence information Variant position: help 135
Protein sequence length: help 250
Location on the sequence: help DVLNDAIFDEDHDEMVIVKD I DMFSMCEHHLVPFVGKVHIG
Residue conservation: help 
Human                         DVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIG

Mouse                         DVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGRVHIG

Rat                           DVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGRVHIG

Chicken                       DVLNDAIFDEDHDEMVIVKNIDMFSLCEHHLVPFVGKVHIG

Caenorhabditis elegans        ELLNEAVFDEDHDEMVIVKDIEMFSLCEHHLVPFMGKVHIG

Drosophila                    DVLNGAVFDEDHDEMVVVKDIEMFSMCEHHLVPFYGKVSIG

Slime mold                    EVIGEAIFNENHHEMVVVRDIDIFSLCEHHMVPFHGKCHIG

Baker's yeast                 DVIKNAVFEEDHDEMVIVRDIEIYSLCEHHLVPFFGKVHIG

Fission yeast                 EVINEAVFQEDHEEMVIVRDIDVFSLCEHHLVPFIGKIHIG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 250 GTP cyclohydrolase 1
Binding site 141 – 141
Binding site 144 – 144
Beta strand 129 – 141



Literature citations
A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.
Brique S.; Destee A.; Lambert J.-C.; Mouroux V.; Delacourte A.; Amouyel P.; Chartier-Harlin M.-C.;
NeuroReport 10:487-491(1999)
Cited for: VARIANT DRD LYS-135;
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.