Variant position: 135 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 LCPEIPDATTVCKSDASCTA GSAGTHSNGVSTGRCVAFNGS
Mouse TCPEIPDKTSICDSDANCTL GSSDTHSSGIGTGRCVPFNAS
Rat TCPEIPDKTSICNSDADCTP GSVDTHSSGVATGRCVPFNES
Bovine LCPEIPGKTTVCETDANCTA GSAGTHSSGVATGRCVSFNGT
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
153 – 153 N-linked (GlcNAc...) asparagine
116 – 165
126 – 149
132 – 159
119 – 119 I -> V. Does not change ATP-induced inward current. Does not change affinity for ATP.
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.