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UniProtKB/Swiss-Prot Q93070: Variant p.Thr117Ile

Ecto-ADP-ribosyltransferase 4
Gene: ART4
Variant information

Variant position:  117
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 Threonine (T) to Isoleucine (I) at position 117 (T117I, p.Thr117Ile).
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 polar (T) to medium size and hydrophobic (I)
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

Polymorphism:  DO is responsible for the Dombrock blood group system [MIM:616060]. The molecular basis of the Do(a)/Do(b) blood group antigen is a single variation in position 265; Asn-265 corresponds to Do(a) and Asp-265 to Do(b). It is also responsible for the antigens Gregory [Gy(a)], Holley [Hy] and Joseph [Jo(a)].
Additional information on the polymorphism described.

Variant description:  In Jo(a).
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  314
The length of the canonical sequence.

Location on the sequence:   WQKAHLAWLNQGKVLPQNMT  T THAVAILFYTLNSNVHSDFT
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                         WQKAHLAWLNQGKVLPQNMTTTHAVAILFYTLNSNVHSDFT

Chimpanzee                    WQKAHLAWLNQGKVLPQNMTTTHAVAILFYTLNSNVHSDFT

Mouse                         WQKAHLTWLNQAKALPESMTPVHAVAIVVFTLNLNVSSDLA

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.

TypePositionsDescription
Chain 47 – 285 Ecto-ADP-ribosyltransferase 4
Binding site 126 – 126 NAD
Glycosylation 114 – 114 N-linked (GlcNAc...) asparagine
Disulfide bond 69 – 280


Literature citations

Insights into the Holley- and Joseph- phenotypes.
Rios M.; Hue-Roye K.; Oyen R.; Miller J.; Reid M.E.;
Transfusion 42:52-58(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; POLYMORPHISM; VARIANTS VAL-108; ILE-117; ASP-265 AND VAL-300;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-108; ILE-117; GLU-135; MET-189; ASP-265 AND VAL-300;

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.