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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05106: Variant p.Leu59Pro

Integrin beta-3
Gene: ITGB3
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Variant information Variant position: help 59
Type of variant: help LB/B
Residue change: help From Leucine (L) to Proline (P) at position 59 (L59P, p.Leu59Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Polymorphism: help Position 59 is associated with platelet-specific alloantigen HPA-1 (ZW or PL(A)). HPA-1A/ZW(A)/PL(A1) has Leu-59 and HPA-1B/ZW(B)/PL(A2) has Pro-59. HPA-1A is involved in fetal-maternal alloimmune thromobocytopenia (FMAIT) as well as in neonatal alloimmune thrombocytopenia (NAIT).Position 169 is associated with platelet-specific alloantigen HPA-4 (PEN or YUK). HPA-4A/PEN(A)/YUK(A) has Arg-169 and HPA-4B/PEN(B)/YUK(B) has Gln-169. HPA-4B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP). - Position 433 is associated with platelet-specific alloantigen MO. MO(-) has Pro-433 and MO(+) has Ala-433. MO(+) is involved in NAIT. - Position 515 is associated with platelet-specific alloantigen CA/TU. CA(-)/TU(-) has Arg-515 and CA(+)/TU(+) has Gln-515. CA(+) is involved in NAIT. - Position 662 is associated with platelet-specific alloantigen SR(A). SR(A)(-) has Arg-662 and SR(A)(+) has Cys-662. -
Variant description: help In alloantigen HPA-1B.
Other resources: help


Sequence information Variant position: help 59
Protein sequence length: help 788
Location on the sequence: help CQQCLAVSPMCAWCSDEALP L GSPRCDLKENLLKDNCAPES
Residue conservation: help 
Human                         CQQCLAVSPMCAWCSDEALPLGSPRCDLKENLLKDNCAPES

Mouse                         CQQCLAVSPVCAWCSDETLSQGSPRCNLKENLLKDNCAPES

Rat                           CQQCLAVSPVCAWCSDESLPQNSPRCNLKKNLLKDKCSPES
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 27 – 788 Integrin beta-3
Topological domain 27 – 718 Extracellular
Domain 30 – 76 PSI
Disulfide bond 39 – 461
Disulfide bond 42 – 64
Disulfide bond 52 – 75
Beta strand 59 – 61



Literature citations
A new exon II polymorphism in the platelet glycoprotein IIIa.
Pascual C.; Balas A.; Garcia-Sanchez F.; Rodriguez de la Rua A.; Vicario J.L.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 56-120; VARIANTS PRO-59 AND ARG-66; The human platelet alloantigens, PlA1 and PlA2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa, and are distinguishable by DNA typing.
Newman P.J.; Derbes R.S.; Aster R.H.;
J. Clin. Invest. 83:1778-1781(1989)
Cited for: VARIANT HPA-1B PRO-59; DESCRIPTION OF ALLOANTIGEN SYSTEM PL(A); Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS PRO-59; GLN-169 AND ILE-453; Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations.
Kazemi A.; Abolghasemi H.; Kazemzadeh S.; Vahidi R.; Faranoush M.; Farsinejad A.; Ala F.;
Blood Coagul. Fibrinolysis 28:681-686(2017)
Cited for: VARIANT GT2 GLN-240; VARIANT PRO-59;
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.