Table 1.
Specificities included in the matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry (MALDI-TOF MS) based ‘RARE module’
| Blood group system | ISBT # | Blood group | Gene (HGNC) | Chromosome | Allele name 1 | Allele name 2 | CDS§ position | CDS on mRNA accession number | nt 1 | nt 2 | Amino acid exchange | dbSNP rs number | Antigens | HFA/LFA | Allele ct. | SNP ct. | Plex W1 | Plex W2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABO | 001 | ABO A vs O1 | ABO | 9q34.2 | ABO*A(wt) | ABO*O.01 | 261 | NM_020469.2 | G | del G | fsThr88Pro | rs8176719 | 2 | – | 2 | 1 | – | W2 |
| ABO | 001 | ABO A vs O2 | ABO | 9q34.2 | ABO*A(wt) | ABO*O.02 | 802 | NM_020469.2 | G | A | Gly268Arg | rs41302905 | – | – | 1 | 1 | – | W2 |
| ABO | 001 | ABO A vs B | ABO | 9q34.2 | ABO*A(wt) | ABO*B | 803 | NM_020469.2 | G | C | Gly268Ala | rs8176747 | 1 | – | 1 | 1 | W1 | – |
| Lutheran | 005 | Lua / Lub | BCAM | 19q13.32 | LU*01 | LU*02 (wt) | 230 | NM_005581.4 | A | G | His77Arg | rs28399653 | 2 | 1 | 2 | 1 | W1 | – |
| Lutheran | 005 | Lu8 / Lu14 | BCAM | 19q13.32 | LU*02.14 | LU*02 (wt) | 611 | NM_005581.4 | A | T | Lys204Met | rs28399656 | 2 | 1 | 1 | 1 | W1 | – |
| Lutheran | 005 | Aua / Aub | BCAM | 19q13.32 | LU*02.19 | LU*02 (wt) | 1615 | NM_005581.4 | G | A | Ala539Thr | rs1135062 | 2 | – | 1 | 1 | – | W2 |
| Kell | 006 | K / k | KEL | 7q34 | KEL*01 | KEL*02 (wt) | 578 | NM_000420.2 | T | C | Met193Thr | rs8176058 | 2 | 1 | 2 | 1 | W1 | – |
| Kell | 006 | Kpa / Kpb | KEL | 7q34 | KEL*02.03 | KEL*02 (wt) | 841 | NM_000420.2 | T | C | Trp281Arg | rs8176059 | 2 | 1 | 1 | 1 | – | W2 |
| Kell | 006 | K11 / K17 | KEL | 7q34 | KEL*02.17 | KEL*02 (wt) | 905 | NM_000420.2 | C | T | Ala302Val | rs61729034 | 2 | 1 | 1 | 1 | W1 | – |
| Kell | 006 | Jsa / Jsb | KEL | 7q34 | KEL*02.06 | KEL*02 (wt) | 1790 | NM_000420.2 | C | T | Pro597Leu | rs8176038 | 2 | 1 | 1 | 1 | W1 | – |
| Diego | 010 | Dia / Dib | SLC4A1 | 17q21.31 | DI*01 | DI*02 (wt) | 2561 | NM_000342.3 | T | C | Leu854Pro | rs2285644 | 2 | 1 | 2 | 1 | W1 | – |
| Wright | 010 | Wra / Wrb | SLC4A1 | 17q21.31 | DI*02.03 | DI*02 (wt) | 1972 | NM_000342.3 | A | G | Glu658Lys | rs75731670 | 2 | 1 | 1 | 1 | – | W2 |
| Cartwright | 011 | Yta / Ytb | ACHE | 7q22.1 | YT*01 (wt) | YT*02 | 1057 | NM_001302621.1 | C | A | His353Asn | rs1799805 | 2 | 1 | 2 | 1 | W1 | – |
| Scianna | 013 | SC1, SC2 | ERMAP | 1p34.2 | SC*01 (wt) | SC*02 | 169 | NM_001017922.1 | G | A | Gly57Arg | rs56025238 | 2 | 1 | 2 | 1 | – | W2 |
| Dombrock | 014 | Doa / Dob | ART4 | 12p12.3 | DO*01 | DO*02 (wt) | 793 | NM_021071.2 | A | G | Asn265Asp | rs11276 | 2 | – | 2 | 1 | – | W2 |
| Dombrock | 014 | Hy+ / Hy- | ART4 | 12p12.3 | DO*02.–04 | DO*02 (wt) | 323 | NM_021071.2 | T | G | Val108Gly | rs28362797 | 2 | 1 | 1 | 1 | W1 | – |
| Dombrock | 014 | Jo(a+) / Jo(a–) | ART4 | 12p12.3 | DO*01.–05 | DO*02 (wt) | 350 | NM_021071.2 | T | C | Ile117Thr | rs28362798 | 2 | 1 | 1 | 1 | – | W2 |
| Colton | 015 | Coa / Cob | AQP1 | 7p14.3 | CO*01.01 (wt) | CO*02 | 134 | NM_198098.2 | C | T | Ala45Val | rs28362692 | 2 | 1 | 2 | 1 | W1 | – |
| Landst.-Wien. | 016 | LWa / LWb | ICAM-4 | 19p13.2 | LW*05 (wt) | LW*07 | 299 | NM_001544.4 | A | G | Gln100Arg | rs77493670 | 2 | 1 | 2 | 1 | W1 | – |
| Cromer | 021 | Cra / Cra- | CD55 | 1q32.2 | CROM*–01 | CROM*01 (wt) | 679 | NM_000574.3 | C | G | Pro227Ala | rs60822373 | 2 | 1 | 2 | 1 | W1 | – |
| Cromer | 021 | Tca / Tcb | CD55 | 1q32.2 | CROM*01.03 | CROM*01 (wt) | 155 | NM_000574.3 | T | G | Leu52Arg | rs28371588 | 2 | 1 | 1 | 1 | W1 | – |
| Cromer | 021 | Tca / Tcc | CD55 | 1q32.2 | CROM*01.04 | CROM*01 (wt) | 155 | NM_000574.3 | C | G | Pro52Arg | rs28371588 | 1 | 1 | 1 | – | W1 | – |
| Knops | 022 | Kna / Knb | CR1 | 1q32.2 | KN*01 (wt) | KN*02 | 4681 | NM_000573.3 | G | A | Val1561Met | rs41274768 | 2 | 1 | 2 | 1 | W1 | – |
| Knops | 022 | McCa / McCb | CR1 | 1q32.2 | KN*01.06 | KN*01 (wt) | 4768 | NM_000573.3 | G | A | Glu1590Lys | rs17047660 | 2 | 1 | 1 | 1 | W1 | – |
| Knops | 022 | Vil+ / Vil– | CR1 | 1q32.2 | KN*01.07 | KN*01 (wt) | 4801 | NM_000573.3 | G | A | Gly1601Arg | rs17047661 | 2 | 1 | 1 | 1 | – | W2 |
| Indian | 023 | Ina / Inb | CD44 | 11p13 | IN*01 | IN*02 (wt) | 137 | NM_001001391.1 | C | G | Pro46Arg | rs369473842 | 2 | 1 | 2 | 1 | W1 | – |
| Vel | 034 | Vel+ / Vel- | SMIM1 | 1p36.32 | VEL*–01 | VEL*01 | c.64–80 del | NM_001163724.2 | del 17 bp | - | Ser22Glnfs* | rs566629828 | 2 | 1 | 2 | 1 | – | W2 |
| Gender | n.a. | female/male | GYG2/paralog | Xp22.33/Yp11.2 | GYG2*Xfemale | GYGpar*Ymale | i2+3291 | NG_021257.1 | ||||||||||
| (female)+ | ||||||||||||||||||
| AC002992.1 (male)+ | C | A | – | no rs | – | – | 2 | 1 | W1 | – | ||||||||
| Gender | n.a. | female/male | AMEL/paralog | Xp22.2/Yp11.2 | AMEL*Xfemale | AMEL*Ymale | i3–7/i4–140 | NG_012040.1 | ||||||||||
| (female)+ | ||||||||||||||||||
| NG_008011.1 (male)+ | T | C | – | no rs | – | – | 2 | 1 | – | W2 | ||||||||
| SUM excluding SNPs for gender determination | 50 | 22 | 40 | 26 | ||||||||||||||
§
CDS =coding sequence, + genomic sequences.