UniProtKB/Swiss-Prot P30793: Variant p.Ile135Thr

GTP cyclohydrolase 1
Gene: GCH1
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Variant information Variant position:

135 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Isoleucine (I) to Threonine (T) at position 135 (I135T, p.Ile135Thr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Sequence information Variant position:

135 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:

DVLNDAIFDEDHDEMVIVKD I DMFSMCEHHLVPFVGKVHIG 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                         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:

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
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.