Variant position: 276 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 595 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 IYWDCNLDRWFHHCRPKYSF RRLDDKTTNVSLYPGYNFRYA
Mouse IYWDCNLDSWSHHCRPRYSF RRLDDKNTDESFVPGYNFRYA
Rat IYWDCNLDSWSHRCQPKYSF RRLDDKYTNESLFPGYNFRYA
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 – 595 P2X purinoceptor 7
47 – 334 Extracellular
284 – 284 N-linked (GlcNAc...) asparagine
4 – 292 Missing. In isoform F.
129 – 595 Missing. In isoform C.
206 – 294 Missing. In isoform E.
A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age-related macular degeneration.
Gu B.J.; Baird P.N.; Vessey K.A.; Skarratt K.K.; Fletcher E.L.; Fuller S.J.; Richardson A.J.; Guymer R.H.; Wiley J.S.;
FASEB J. 27:1479-1487(2013)
Cited for: VARIANTS ALA-76; ARG-150; HIS-155; HIS-270; HIS-276; GLN-307; THR-348; SER-357; ARG-460; ALA-496 AND ASN-568; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ARG-150; 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 ALA-76; TRP-117; LEU-125; ARG-148; ARG-150; HIS-155; MET-205; HIS-264; HIS-270; HIS-276; HIS-288; GLN-307; THR-348; SER-357; SER-361; VAL-433; ARG-460; ALA-496; GLN-521; ILE-522; VAL-535; GLN-544 AND ASN-568; CHARACTERIZATION OF VARIANTS MET-205 AND SER-361; 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.