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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P24557: Variant p.Gln416Glu

Thromboxane-A synthase
Gene: TBXAS1
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Variant information Variant position: help 416 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamine (Q) to Glutamate (E) at position 416 (Q416E, p.Gln416Glu). 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 medium size and polar (Q) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 2 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 allele CYP5A1*6; does not affect KM value for PEG2; does not affect Vmax/KM value. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 416 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 533 The length of the canonical sequence.
Location on the sequence: help VIAETLRMYPPAFRFTREAA Q DCEVLGQRIPAGAVLEMAVG 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                         VIAETLRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVG

Mouse                         VISETLRMYPPAFRFTREAAQDCEVLGQRIPAGTVLEIAVG

Rat                           VVAETLRMYPPAFRFTREAAQDCEVLGQHIPAGSVLEIAVG

Pig                           VLSETLRMYPPAFRFTREAARDCEVLGQRIPAGTVLEVAVG

Bovine                        VIKETLRMYPPAFRFTRVAAQDCEVLGQRIPAGAVLETAVG

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 1 – 533 Thromboxane-A synthase
Topological domain 357 – 533 Cytoplasmic
Mutagenesis 409 – 409 R -> G. Does not affect thromboxane-A synthase activity. Does not affect heme-binding.
Mutagenesis 412 – 412 R -> K. Loss of thromboxane-A synthase activity. Decreased heme-binding.
Mutagenesis 414 – 414 A -> V. Does not affect thromboxane-A synthase activity. Does not affect heme-binding.



Literature citations
Identification of genetic variants in the human thromboxane synthase gene (CYP5A1).
Chevalier D.; Lo-Guidice J.-M.; Sergent E.; Allorge D.; Debuysere H.; Ferrari N.; Libersa C.; Lhermitte M.; Broly F.;
Mutat. Res. 432:61-67(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-60; GLU-160; SER-245; VAL-356; GLU-416; LYS-449; ASN-450 AND GLN-465; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS HIS-60; ILE-162; THR-331; VAL-356; GLU-416 AND THR-429; Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANTS GLU-160; VAL-356; GLU-416; CYS-424 AND THR-429; Functional analysis of human thromboxane synthase polymorphic variants.
Chen C.Y.; Poole E.M.; Ulrich C.M.; Kulmacz R.J.; Wang L.H.;
Pharmacogenet. Genomics 22:653-658(2012)
Cited for: CATALYTIC ACTIVITY; FUNCTION; CHARACTERIZATION OF VARIANTS GLU-257; VAL-356; GLU-416; LYS-449 AND ASN-450; BIOPHYSICOCHEMICAL PROPERTIES;
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.