Variant position: 242 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 KTDPFCPIFRLGKIVENAGH SFQDMAVEGGIMGIQVNWDCN
Mouse RTDPFCPIFRLGQIVADAGH SFQEMAVEGGIMGIQIKWDCN
Rat QTDPFCPIFRLGTIVEDAGH SFQEMAVEGGIMGIQIKWDCN
Bovine KTDPFCPIFRLGKIVESAGH SFQDIAIEGGIMGIQIKWNCN
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
55 – 338 Extracellular
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT GLY-242;
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;
Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.
Sadovnick A.D.; Gu B.J.; Traboulsee A.L.; Bernales C.Q.; Encarnacion M.; Yee I.M.; Criscuoli M.G.; Huang X.; Ou A.; Milligan C.J.; Petrou S.; Wiley J.S.; Vilarino-Gueell C.;
Hum. Mutat. 38:736-744(2017)
Cited for: VARIANTS CYS-3; SER-135; GLY-242 AND CYS-315; CHARACTERIZATION OF VARIANT SER-135; SUBCELLULAR LOCATION; FUNCTION;
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.