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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BY32: Variant p.Arg178Cys

Inosine triphosphate pyrophosphatase
Gene: ITPA
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Variant information Variant position: help 178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Arginine (R) to Cysteine (C) at position 178 (R178C, p.Arg178Cys). 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: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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

Variant description: help In DEE35; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 194 The length of the canonical sequence.
Location on the sequence: help DGYEQTYAEMPKAEKNAVSH R FRALLELQEYFGSLAA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         DGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA--------------

Mouse                         DGYEQTYAEMPKSEKNTISHRFRALHKLQEYFSVAAG

Rat                           DGYEQTYAEMPKAEKNTISHRFRALFKLQEYFGVTDG

Bovine                        DGYEQTYAEMPKAEKNTISHRFRALLALQEYFSSLTP

Chicken                       DGYDQTYAELPKAVKNSISHRYRALSELSAFFLQSNP

Xenopus laevis                DGFQQTYAELPKEVKNTISHRYRALKEMSDYFIQNGT

Zebrafish                     EGYDKTYAELPKEVKNSISHRYRALAALSEHFCQDNG

Caenorhabditis elegans        DGFKETFGEMDKDVKNEISHRAKALELLKEYFQNN--

Drosophila                    SGYDKTYAELPKSEKNTISHRYRALALLRQHFEKQDK

Slime mold                    DGYKETYAEMDKSIKNTISHRTRSLQKVKEFLKSKGY

Baker's yeast                 DSHGLTYAEMSKDAKNAISHRGKAFAQFKEYLYQNDF

Fission yeast                 NGHKHTYAEMTDEERNSCSHRYLAAMKLRDFLESEKN

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 194 Inosine triphosphate pyrophosphatase
Binding site 172 – 172
Binding site 177 – 178
Helix 177 – 189



Literature citations
Recessive ITPA mutations cause an early infantile encephalopathy.
Kevelam S.H.; Bierau J.; Salvarinova R.; Agrawal S.; Honzik T.; Visser D.; Weiss M.M.; Salomons G.S.; Abbink T.E.; Waisfisz Q.; van der Knaap M.S.;
Ann. Neurol. 78:649-658(2015)
Cited for: INVOLVEMENT IN DEE35; VARIANT DEE35 CYS-178;
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.