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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96RD7: Variant p.Gln5His

Pannexin-1
Gene: PANX1
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Variant information Variant position: help 5
Type of variant: help LB/B
Residue change: help From Glutamine (Q) to Histidine (H) at position 5 (Q5H, p.Gln5His).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 5
Protein sequence length: help 426
Location on the sequence: help MAIA Q LATEYVFSDFLLKEPTEPKF
Residue conservation: help 
Human                         MAIAQLATEYVFSDFLLKEPTEPKF

Mouse                         MAIAHLATEYVFSDFLLKEPTEPKF

Rat                           MAIAHLATEYVFSDFLLKEPTEPKF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 426 Pannexin-1
Chain 1 – 379 Caspase-activated pannexin-1
Topological domain 1 – 40 Cytoplasmic
Helix 3 – 10



Literature citations
A novel cDNA of unknown function.
Bolger G.B.; Steele M.R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT HIS-5; The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins.
Baranova A.; Ivanov D.; Petrash N.; Pestova A.; Skoblov M.; Kelmanson I.; Shagin D.; Nazarenko S.; Geraymovych E.; Litvin O.; Tiunova A.; Born T.L.; Usman N.; Staroverov D.; Lukyanov S.; Panchin Y.;
Genomics 83:706-716(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2); VARIANT HIS-5; The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
Clark H.F.; Gurney A.L.; Abaya E.; Baker K.; Baldwin D.T.; Brush J.; Chen J.; Chow B.; Chui C.; Crowley C.; Currell B.; Deuel B.; Dowd P.; Eaton D.; Foster J.S.; Grimaldi C.; Gu Q.; Hass P.E.; Heldens S.; Huang A.; Kim H.S.; Klimowski L.; Jin Y.; Johnson S.; Lee J.; Lewis L.; Liao D.; Mark M.R.; Robbie E.; Sanchez C.; Schoenfeld J.; Seshagiri S.; Simmons L.; Singh J.; Smith V.; Stinson J.; Vagts A.; Vandlen R.L.; Watanabe C.; Wieand D.; Woods K.; Xie M.-H.; Yansura D.G.; Yi S.; Yu G.; Yuan J.; Zhang M.; Zhang Z.; Goddard A.D.; Wood W.I.; Godowski P.J.; Gray A.M.;
Genome Res. 13:2265-2270(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT HIS-5; Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
Otsuki T.; Ota T.; Nishikawa T.; Hayashi K.; Suzuki Y.; Yamamoto J.; Wakamatsu A.; Kimura K.; Sakamoto K.; Hatano N.; Kawai Y.; Ishii S.; Saito K.; Kojima S.; Sugiyama T.; Ono T.; Okano K.; Yoshikawa Y.; Aotsuka S.; Sasaki N.; Hattori A.; Okumura K.; Nagai K.; Sugano S.; Isogai T.;
DNA Res. 12:117-126(2005)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT HIS-5;
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.