Variant position: 6 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 388 The length of the canonical sequence.
Location on the sequence:
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 MAGCC AALAAFLFEYDTPRIVLIRSR
Mouse MAGCC SVLGSFLFEYDTPRIVLIRSR
Rat MAGCC SVLGSFLFEYDTPRIVLIRSR
Bovine MTGCC TVLGAFLFEYDTPRIVLIRSR
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
1 – 388 P2X purinoceptor 4
1 – 33 Cytoplasmic
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;
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.;
Cited for: VARIANTS GLY-242 AND CYS-315; CHARACTERIZATION OF VARIANTS SER-6; GLY-242 AND CYS-315; MUTAGENESIS OF ILE-119; FUNCTION;
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