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UniProtKB/Swiss-Prot P30793: Variant p.Ile135Thr

GTP cyclohydrolase 1
Gene: GCH1
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Variant information Variant position: help 135
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Threonine (T) at position 135 (I135T, p.Ile135Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to medium size and polar (T)
BLOSUM score: help -1


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
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;
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.