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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99571: Variant p.Ala6Ser

P2X purinoceptor 4
Gene: P2RX4
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Variant information Variant position: help 6 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 Alanine (A) to Serine (S) at position 6 (A6S, p.Ala6Ser). 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 small size and hydrophobic (A) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help Does not change ATP-induced inward current; does not change affinity for ATP. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 6 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 388 The length of the canonical sequence.
Location on the sequence: help MAGCC A ALAAFLFEYDTPRIVLIRSR 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                         MAGCCAALAAFLFEYDTPRIVLIRSR

Mouse                         MAGCCSVLGSFLFEYDTPRIVLIRSR

Rat                           MAGCCSVLGSFLFEYDTPRIVLIRSR

Bovine                        MTGCCTVLGAFLFEYDTPRIVLIRSR

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 – 388 P2X purinoceptor 4
Topological domain 1 – 33 Cytoplasmic



Literature citations
Characterization of recombinant human P2X4 receptor reveals pharmacological differences to the rat homologue.
Garcia-Guzman M.; Soto F.; Gomez-Hernandez J.M.; Lund P.E.; Stuhmer W.;
Mol. Pharmacol. 51:109-118(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-6; FUNCTION; TRANSPORTER ACTIVITY; ACTIVITY REGULATION; Shear stress downregulates the expression of P2X4 receptor by human endothelial cells.
Korenaga R.; Yamamoto K.; Kamiya A.; Ando J.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANT SER-6; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3); VARIANT SER-6; A loss-of-function polymorphism in the human P2X4 receptor is associated with increased pulse pressure.
Stokes L.; Scurrah K.; Ellis J.A.; Cromer B.A.; Skarratt K.K.; Gu B.J.; Harrap S.B.; Wiley J.S.;
Hypertension 58:1086-1092(2011)
Cited for: VARIANTS GLY-242 AND CYS-315; CHARACTERIZATION OF VARIANTS SER-6; GLY-242 AND CYS-315; MUTAGENESIS OF ILE-119; FUNCTION;
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.