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EBI Databases Nucleotide Databases IPD HPA

IPD - The Immuno Polymorphism Database

All HPA Genetic Information


Antigen Glyco-
protein		 HGNC Chromosome Entrez Gene Ref_Seq Swiss-Prot dbSNP Nucleotide
Change 		Precursor Mature
Protein 		Reference
HPA-1 GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human rs5918 176T>C L59P L33P Newman et al, J Clin Invest 83:1778-81 (1989)
HPA-2 GPIba GP1BA 17 2811 NM_000173 GPBA_Human rs6065 482C>T T161M T145M Kuijpers et al, J Clin Invest 89:381-4 (1992)
HPA-3 GPIIb ITGA2B 17 3674 NM_000419 ITAB_Human rs5911 2621T>G I874S I843S Lyman et al, Blood 1990, 75:2343-8 (1990)
HPA-4 GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human rs5917 506G>A R169Q R143Q Wang et al, Proceedings of the Japan Academy 67:102-6 (1991)
Wang et al, J Clin Invest 90:2038-43 (1992)
HPA-5 GPIa ITGA2 5 3673 NM_002203 ITGA2_Human rs10471371 1600G>A E534K E505K Santoso et al, J Clin Invest 92:2427-32 (1993)
Kalb et al, Thromb Haemost 71:651-4 (1994)
Simsek et al, Br J Haematol 86:671-4 (1994)
HPA-6w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human rs13306487 1544G>A R515Q R489Q Wang et al, Blood 82:3386-91 (1993)
HPA-7w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human   1297C>G P433A P407A Kuijpers et al, Blood 81:70-6 (1993)
HPA-8w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human   1984C>T R662C R636C Santoso et al, J Biol Chem 269:8439-44 (1994)
HPA-9w GPIIb ITGA2B 17 3674 NM_000419 ITAB_Human   2602G>A V868M V837M Noris et al, Blood 86:1019-26 (1995)
HPA-10w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human   263G>A R88Q R62Q Peyruchaud et al, Blood 89:2422-28 (1997)
HPA-11w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human   1976G>A R659H R633H Simsek et al, Br J Haematol 97:330-335 (1997)
HPA-12w GPIbb GP1BB 22 2812 NM_000407 GPBB_Human   119G>A G40E G15E Sachs et al, Blood 95:1849-55 (2000)
HPA-13w GPIa ITGA2 5 3673 NM_002203 ITGA2_Human   2483C>T T828M T799M Santoso et al, Blood 94:4103-11 (1999)
HPA-14w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human   1909_1911delAAG K637del K611del Santoso et al, Blood 99:1205-14 (2002)
HPA-15 CD109 CD109 6 135228 NM_133493 Q8TDJ3 rs10455097 2108C>A S703Y S682Y Schuh et al, Blood 99:1692-98 (2002)
HPA-16w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human   497C>T T166I T140I Jallu et al, Blood 99:4449-56 (2002)
HPA-17w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human   662C>T T221M T195M Stafford et al, Transfusion 48:1432-38 (2008)
HPA-18w GP1a ITGA2 5 3673 NM_002203 ITGA2_Human   2235G>T Q745H Q716H Bertrand et al, Transfusion 49:2076-83 (2009)
HPA-19w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human ss120032848 487A>C K163Q K137Q Peterson et al, Transfusion (2009)
HPA-20w GPIIb ITGA2B 17 3674 NM_000419 ITAB_Human ss120032852 1949C>T T650M T619M Peterson et al, Transfusion (2009)
HPA-21w GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human ss120032849 1960G>A E654K E628K Peterson et al, Transfusion (2009)
HPA-22bw GPIIb ITGA2B 17 3674 NM_000419 ITAB_Human rs142811900 584A>C K195T K164T Peterson et al, Transfusion (2012)
HPA-23bw GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human rs139166528 1942C>T R648W R622W Peterson et al, Transfusion (2012)
HPA-24bw GPIIb ITGA2B 17 3674 NM_000419 ITAB_Human   1508G>A S503N S472N Jallu et al, Transfusion (2011)
HPA-25bw GPIa ITGA2 5 3673 NM_002203 ITGA2_Human   3347C>T T1116M T1087M Kroll et al, Transfusion (2011)
HPA-26bw GPIIIa ITGB3 17 3690 NM_000212 ITB3_Human   1818G>T K606N K580N Sachs et al, Thromb Haemost (2012)
HPA-27bw GPIIb ITGA2B 17 3674 NM_000419 ITAB_Human rs149468422 2614C>A L872M L841M Jallu et al, published online (2012)
  • HGNC - The name assigned to the encoding gene by The Human Genome Organisation (HUGO) Gene Nomenclature Committee
    http://www.genenames.org/
  • Locuslink ID - The unique identifier for the genetic locus which harbors the gene encoding the protein
    http://www.ncbi.nlm.nih.gov/LocusLink
  • RefSeq - The unique Reference Sequence identifier for the mRNA encoding the protein, as assigned by the National Center for Biotechnology Information (NCBI)
    http://www.ncbi.nlm.nih.gov/RefSeq/index.html
  • UniProtKB/Swiss-Prot- The Unique UniProtKB/Swiss-Prot Protein Knowledgebase identifier for the protein
    http://www.ebi.ac.uk/swissprot/
  • Nucleotide change - Nucleotide numbers are given in relation to the reference sequence in the NCBI database, as indicated in the RefSeq column, and we have used the numbering convention as recommended by Antonarakis (Hum Mutat 1998;11:1-3) whereby the A of the start codon is +1.  For example the T/C SNP coding for HPA-1 is at position 196 in the RefSeq sequence, but because this sequence includes 20 nucleotides upstream of the start codon, the SNP is designated at position 176 in the table above. Therefore, it is likely that the nucleotide positions given above are different to the numbers in the original publication describing the mutation.
  • Nucleotide and protein substitutions are shown as changes from the more common form (a) to the less common form (b). In certain cases, e.g. HPA-5, the reference sequence encodes the less common form.

Further Information

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