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HPA Gene Database

The HPA Gene Database table details genetic information about HPA Antigens.

HPA Gene Database

 

The following table details genetic information about HPA Antigens. The following conventions are used in the table:

  • 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.
  • Nucleotide and protein substitutions are shown as changes from the higher frequency (a) allele to the less common (b) allele. In certain cases, e.g. HPA-5, the reference sequence encodes the less common form.
HPA HGNC Gene Chr Entrez Gene Ref Seq Uni-Prot dbSNP Nucleotide Change Precursor Protein Mature Protein Reference GnomAD
HPA-1a/1b ITGB3 17 3690 NM 000212 ITB3 Human rs5918 176T>C L59P L33P Newman et al, J Clin Invest (1989) Link
HPA-2a/2b GP1BA 17 2811 NM_000173 GPBA_Human rs6065 482C>T T161M T145M Kuijpers et al, J Clin Invest (1992) Link
HPA-3a/3b ITGA2B 17 3674 NM_000419 ITAB_Human rs5911 2621T>G I874S I843S Lyman et al, Blood (1990) Link
HPA-4a/4b ITGB3 17 3690 NM_000212 ITB3_Human rs5917 506G>A R169Q R143Q Wang et al, J Clin Invest (1992)
Wang et al, Proceedings of the Japan Academy (1991) 		Link
HPA-5a/5b ITGA2 5 3673 NM_002203 ITA2_Human rs1801106 1600G>A E534K E505K Santoso et al, J Clin Invest(1993)
Kalb et al, Thromb Haemost (1994)
Simsek et al, Br J Haematol (1994) 		Link
HPA-6a/6b ITGB3 17 3690 NM_000212 ITB3_Human rs13306487 1544G>A R515Q R489Q Wang et al, Blood 82:3386-91 (1993) Link
HPA-7a/7b ITGB3 17 3690 NM_000212 ITB3_Human rs121918448 1297C>G P433A P407A Kujipers et al, Blood 81:70-6 (1993) Link
HPA-8a/8b ITGB3 17 3690 NM_000212 ITB3_Human rs151219882 1984C>T R662C R636C Santoso et al, J Biol Chem 269:8439-44 (1994) Link
HPA-9a/9b ITGA2B 17 3674 NM_000419 ITAB_Human rs74988902 2602G>A V868M V837M Noris et al, Blood 86:1019-26 (1995) Link
HPA-10a/10b ITGB3 17 3690 NM_000212 ITB3_Human rs200358667 263G>A R88Q R62Q Peyruchaud et al, Blood (1997) Link
HPA-11a/11b ITGB3 17 3690 NM_000212 ITB3_Human rs377302275 1976G>A R659H R633H Simsek et al, Blood (1997) Link
HPA-12a/12b GP1BB 22 2812 NM_000407 GPBB_Human rs375285857 119G>A G40E G15E Sachs et al, Blood (2000) Link
HPA-13a/13b ITGA2 5 3673 NM_002203 ITA2_Human rs79932422 2483C>T T828M T799M Santoso et al, Blood (1999) Link
HPA-14a/14b ITGB3 17 3690 NM_000212 ITB3_Human 1909_1911delAAG K637del K611del Santoso et al, Blood (2002) HPA-14b not reported
HPA-15a/15b CD109 8 135228 NM_133493 Q8TDJ3 rs10455097 2108C>A S703Y S682Y Schuh et al, Blood (2002) Link
HPA-16a/16b ITGB3 17 3690 NM_000212 ITB3_Human rs74708909 497C>T T166I T140I Jallu et al, Blood (2002) HPA-16b not reported
HPA-17a/17b ITGB3 17 3690 NM_000212 ITB3_Human rs770992614 662C>T T221M T195M Stafford et al, Transfusion (2008) Link
HPA-18a/18b ITGA2 5 3673 NM_002203 ITA2_Human rs267606593 2235G>T Q745H Q716H Bertrand et al, Transfusion (2009) Link
HPA-19a/19b ITGB3 17 3690 NM_000212 ITB3_Human rs80115510 487A>C K163Q K137Q Peterson et al, Transfusion (2010) HPA-19b not reported
HPA-20a/20b ITGA2B 17 3674 NM_000419 ITAB_Human rs78299130 1949C>T T650M T619M Peterson et al, Transfusion (2010) Link
HPA-21a/21b ITGB3 17 3690 NM_000212 ITB3_Human rs70940817 1960G>A E654K E628K Peterson et al, Transfusion (2010) Link
HPA-22a/22b ITGA2B 17 3674 NM_000419 ITAB_Human rs142811900 584A>C K195T K164T Peterson et al, Transfusion (2012) HPA-22b not reported
HPA-23a/23b ITGB3 17 3690 NM_000212 ITB3_Human rs139166528 1942C>T R648W R622W Peterson et al, Transfusion (2012) Link
HPA-24a/24b ITGA2B 17 3674 NM_000419 ITAB_Human rs281864910 1508G>A S503N S472N Jallu et al, Transfusion (2011) Link
HPA-25a/25b ITGA2 5 3673 NM_002203 ITA2_Human rs771035051 3347C>T T1116M T1087M Kroll et al, Transfusion (2011) Link
HPA-26a/26b ITGB3 17 3690 NM_000212 ITB3_Human rs1156382155 1818G>T K606N K580N Sachs et al, Thromb Haemost (2012) Link
HPA-27a/27b ITGA2B 17 3674 NM_000419 ITAB_Human rs149468422 2614C>A L872M L841M Jallu et al, Transfusion (2013) Link
HPA-28a/28b ITGA2B 17 3674 NM_000419 ITAB_Human rs368953599 2311G>T V771L V740L Poles et al, Transfusion (2013) Link
HPA-29a/29b ITGB3 17 3690 NM_000212 ITB3_Human rs544276300 98C>T T33M T7M Sullivan et al, Transfusion (2015) Link
HPA-30a/30b ITGA2B 17 3674 NM_000419 ITAB_Human rs377753373 2511G>C Q837H Q806H Wihadmadyatami et al, Transfusion (2015) Link
HPA-31a/31b GP9 3 2815 NM_000174 GPIX_Human rs202229101 368C>T P123L P107L Jallu et al, J Thromb Haemost (2017) Link
HPA-32a/32b ITGB3 17 3690 NM_000212 ITB3_Human rs879083862 521A>G D174S D148S Sullivan et al, Transfusion (2017) HPA-32b not reported
HPA-33a/33b ITGB3 17 3690 NM_000212 ITB3_Human rs1555572829 1373A>G D458G D432G Poles et al, Transfusion (2019) HPA-33b not reported
HPA-34a/34b ITGB3 17 3690 NM_000212 ITB3_Human rs777748046 349C>T R117W R91W Bertrand et al, Transfusion (2019) Link
HPA-35a/35b ITGB3 17 3690 NM_000212 ITB3_Human rs779974422 1514A>G R505H R479H Bertrand et al, Transfusion (2019) Link

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