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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05106: Variant p.Arg662Cys

Integrin beta-3
Gene: ITGB3
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Variant information Variant position: help 662
Type of variant: help LB/B
Residue change: help From Arginine (R) to Cysteine (C) at position 662 (R662C, p.Arg662Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
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 SR(A).
Other resources: help


Sequence information Variant position: help 662
Protein sequence length: help 788
Location on the sequence: help ECKKFDRGALHDENTCNRYC R DEIESVKELKDTGKDAVNCT
Residue conservation: help 
Human                         ECKKFDRGALHDENTCNRYCRDEIESVKELKDTGKDAVNCT

Mouse                         ECKKFNRGTLHEENTCSRYCRDDIEQVKELTDTGKNAVNCT

Rat                           ECKKFNRGKLHEENNCNRFCRDDIELVKELTDTGKNAVNCT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 27 – 788 Integrin beta-3
Topological domain 27 – 718 Extracellular
Glycosylation 680 – 680 N-linked (GlcNAc...) asparagine
Disulfide bond 634 – 681
Mutagenesis 659 – 659 R -> A. Slight increase in ligand-binding activity; when associated with 698-D--K-702 del.



Literature citations
A point mutation leads to an unpaired cysteine residue and a molecular weight polymorphism of a functional platelet beta 3 integrin subunit. The Sra alloantigen system of GPIIIa.
Santoso S.; Kalb R.; Kroll H.; Walka M.; Kiefel V.; Mueller-Eckhardt C.; Newman P.J.;
J. Biol. Chem. 269:8439-8444(1994)
Cited for: VARIANT SR(A) CYS-662; DESCRIPTION OF ALLOANTIGEN SYSTEM SR(A);
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.