Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99572: Variant p.Arg125Leu

P2X purinoceptor 7
Gene: P2RX7
Feedback?
Variant information Variant position: help 125
Type of variant: help LB/B
Residue change: help From Arginine (R) to Leucine (L) at position 125 (R125L, p.Arg125Leu).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (L)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 125
Protein sequence length: help 595
Location on the sequence: help MTNFLKTEGQEQRLCPEYPT R RTLCSSDRGCKKGWMDPQSK
Residue conservation: help 
Human                         MTNFLKTEGQEQRLCPEYPTRRTLCSSDRGCKKGWMDPQSK

Mouse                         MTNYVKSEGQVQTLCPEYPRRGAQCSSDRRCKKGWMDPQSK

Rat                           MTNYLKSEGQEQKLCPEYPSRGKQCHSDQGCIKGWMDPQSK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 595 P2X purinoceptor 7
Topological domain 47 – 334 Extracellular
Modified residue 125 – 125 ADP-ribosylarginine
Modified residue 133 – 133 ADP-ribosylarginine
Disulfide bond 119 – 168
Alternative sequence 4 – 292 Missing. In isoform F.
Alternative sequence 8 – 177 Missing. In isoform D.
Alternative sequence 122 – 128 YPTRRTL -> EFRPEGV. In isoform C.



Literature citations
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;
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.