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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02548: Variant p.Val151Ile

Paired box protein Pax-5
Gene: PAX5
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Variant information Variant position: help 151
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 151 (V151I, p.Val151Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 151
Protein sequence length: help 391
Location on the sequence: help SVSSINRIIRTKVQQPPNQP V PASSHSIVSTGSVTQVSSVS
Residue conservation: help 
Human                         SVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVS

Mouse                         SVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVS

Xenopus laevis                SVSSINRIIRTKVQQPTNQQIPPSNHSIASTGSVTQVSSVS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 391 Paired box protein Pax-5



Literature citations
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.
Shah S.; Schrader K.A.; Waanders E.; Timms A.E.; Vijai J.; Miething C.; Wechsler J.; Yang J.; Hayes J.; Klein R.J.; Zhang J.; Wei L.; Wu G.; Rusch M.; Nagahawatte P.; Ma J.; Chen S.C.; Song G.; Cheng J.; Meyers P.; Bhojwani D.; Jhanwar S.; Maslak P.; Fleisher M.; Littman J.; Offit L.; Rau-Murthy R.; Fleischut M.H.; Corines M.; Murali R.; Gao X.; Manschreck C.; Kitzing T.; Murty V.V.; Raimondi S.C.; Kuiper R.P.; Simons A.; Schiffman J.D.; Onel K.; Plon S.E.; Wheeler D.A.; Ritter D.; Ziegler D.S.; Tucker K.; Sutton R.; Chenevix-Trench G.; Li J.; Huntsman D.G.; Hansford S.; Senz J.; Walsh T.; Lee M.; Hahn C.N.; Roberts K.G.; King M.C.; Lo S.M.; Levine R.L.; Viale A.; Socci N.D.; Nathanson K.L.; Scott H.S.; Daly M.; Lipkin S.M.; Lowe S.W.; Downing J.R.; Altshuler D.; Sandlund J.T.; Horwitz M.S.; Mullighan C.G.; Offit K.;
Nat. Genet. 45:1226-1231(2013)
Cited for: VARIANT ALL3 SER-183; VARIANTS ARG-24; GLY-26; GLN-34; VAL-53; GLY-59; ASN-66; ARG-75; ARG-80; THR-139; ILE-151; VAL-183; LEU-213; THR-301 AND VAL-338; CHARACTERIZATION OF VARIANT ALL3 SER-183;
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.