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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99572: Variant p.Arg270Cys

P2X purinoceptor 7
Gene: P2RX7
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Variant information Variant position: help 270
Type of variant: help LB/B
Residue change: help From Arginine (R) to Cysteine (C) at position 270 (R270C, p.Arg270Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 270
Protein sequence length: help 595
Location on the sequence: help GIMGIEIYWDCNLDRWFHHC R PKYSFRRLDDKTTNVSLYPG
Residue conservation: help 
Human                         GIMGIEIYWDCNLDRWFHHCRPKYSFRRLDDKTTNVSLYPG

Mouse                         GIMGIEIYWDCNLDSWSHHCRPRYSFRRLDDKNTDESFVPG

Rat                           GIMGIEIYWDCNLDSWSHRCQPKYSFRRLDDKYTNESLFPG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 595 P2X purinoceptor 7
Topological domain 47 – 334 Extracellular
Glycosylation 284 – 284 N-linked (GlcNAc...) asparagine
Alternative sequence 4 – 292 Missing. In isoform F.
Alternative sequence 129 – 595 Missing. In isoform C.
Alternative sequence 206 – 294 Missing. In isoform E.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.