005 Lutheran Blood Group
The Lutheran blood group system consists of 22 antigens carried on a single pass type 1 membrane glycoprotein (aka CD239, BCAM) with five disulfide-bonded, extracellular, immunoglobulin superfamily (IgSF) domains, which has adhesion properties and may mediate intracellular signalling. It consists of 597 amino acids.
Antigens
[1] Lua
[2] Lub
[3] Lu3
[4] Lu4
[5] Lu5
[6] Lu6
[7] Lu7
[8] Lu8
[9] Lu9
[10] …
[11] Lu11
[12] Lu12
[13] Lu13
[14] Lu14
[15] …
[16] Lu16
[17] Lu17
[18] Aua
[19] Aub
[20] Lu20
[21] Lu21
[22] LURC
[23] LUIT
[24] LUGA
[25] LUAC
[26] LUBI
[27] LUYA
Reference Info
Gene: BCAM
Allele: LU*02. Acceptable: LU*B, or Lub if inferred by haemagglutination
Seq: NG_007480.1 (genomic), NM_005581.4 (transcript)
Entrez GeneID: 4059
Number of exons: 15
Allele: LU*02. Acceptable: LU*B, or Lub if inferred by haemagglutination
Seq: NG_007480.1 (genomic), NM_005581.4 (transcript)
Entrez GeneID: 4059
Number of exons: 15
Loading Data ... |
allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
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1:Weak Alleles | Lu(b+w ) | LU*02W.01 |
c.559C>T c.711C>T c.714C>T |
Exon 5
Exon 6 Exon 6 |
p.Arg187Cys p.Cys237Cys p.Ala238Ala |
chr19:44813304 chr19:44813547 chr19:44813550 |
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4:Null Alleles | Lunull | LU*02N.01 | c.691C>T | Exon 6 | p.Arg231Ter | chr19:44813527 |
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0:Antigen Alleles | LU:1 or Lu(a+) | LU*01 or LU*A | c.230G>A | Exon 3 | p.Arg77His | chr19:44812188 | ||||
4:Null Alleles | Lunull | LU*02N.02 | c.204+323_504+183del | Intron 2 | p.Thr69_Glu168del | chr19:44811669 |
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0:Antigen Alleles | LU:2 or Lu(b+) | LU*02 or LU*B | ||||||||
1:Weak Alleles | Lu(b+w ) comment: similarity to LU*02.14 | LU*02W.02 |
c.611T>A c.638C>T |
Exon 6
Exon 6 |
p.Met204Lys p.Ser213Leu |
chr19:44813447 chr19:44813474 |
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4:Null Alleles | Lunull | LU*02N.03 | c.711C>A | Exon 6 | p.Cys237Ter | chr19:44813547 |
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1:Weak Alleles | Lu(b+w ) comment: similarity to LU*02.-13 | LU*02W.03 |
c.1306C>T c.1340C>T c.1671C>T c.1742A>T |
Exon 10
Exon 11 Exon 13 Exon 13 |
p.Arg436Cys p.Ser447Leu p.Ser557Ser p.Gln581Leu |
chr19:44818852 chr19:44819059 chr19:44819634 chr19:44819705 |
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4:Null Alleles | Lunull | LU*02N.04 | c.361C>T | Exon 3 | p.Arg121Ter | chr19:44812319 | ||||
0:Antigen Alleles | LU:-4 | LU*02.-04.1 | c.524G>A | Exon 5 | p.Arg175Gln | chr19:44813269 | ||||
0:Antigen Alleles | LU:-4 | LU*02.-04.2 | c.524G>T | Exon 5 | p.Arg175Leu | chr19:44813269 |
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0:Antigen Alleles | LU:-5 | LU*02.-05 | c.326G>A | Exon 3 | p.Arg109His | chr19:44812284 | ||||
4:Null Alleles | Lunull | LU*02N.05 | Ins123GG (?) | 42Gly-Arg-X (?) | ||||||
4:Null Alleles | Lunull | LU*02N.06 | del ex 3 to 15, 26933 bp | p.68Leu-X629 | ||||||
4:Null Alleles | Lunull | LU*02N.07 | c.1049del2ins3 | Exon 8 | p.Leu350GlnfsTer425 | chr19:44814731 |
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0:Antigen Alleles | LU:-7 | LU*02.-07 | c.1274A>C | Exon 10 | p.Glu425Ala | chr19:44818820 | ||||
0:Antigen Alleles | LU:-6,9 | LU*02.09 | c.824C>T | Exon 7 | p.Ser275Phe | chr19:44814191 | ||||
0:Antigen Alleles | LU:-12 | LU*02.-12.1 | c.99_104delGCGCTT | Exon 2 | p.Arg34_Leu35del | chr19:44811241 |
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0:Antigen Alleles | LU:-12 | LU*02.-12.2 | c.419G>A | Exon 3 | p.Arg140Gln | chr19:44812377 | ||||
0:Antigen Alleles | LU:-13 | LU*02.-13 |
c.1340C>T c.1671C>T c.1742A>T |
Exon 11
Exon 13 Exon 13 |
p.Ser447Leu p.Gln581Leu |
chr19:44819059 chr19:44819634 chr19:44819705 |
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0:Antigen Alleles | LU:-8,14 | LU*02.14 | c.611T>A | Exon 6 | p.Met204Lys | chr19:44813447 | ||||
0:Antigen Alleles | LU:-16 | LU*01.-16 |
c.230G>A c.679C>T |
Exon 3
Exon 6 |
p.Arg77His p.Arg227Cys |
chr19:44812188 chr19:44813515 |
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0:Antigen Alleles | LU:-17 | LU*02.-17 | c.340G>A | Exon 3 | p.Glu114Lys | chr19:44812298 |
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0:Antigen Alleles | LU:1,19 | LU*01.19 |
c.230G>A c.1615A>G |
Exon 3
Exon 12 |
p.Arg77His p.Thr539Ala |
chr19:44812188 chr19:44819487 |
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0:Antigen Alleles | LU:-18,19 or Au(a-b+) | LU*02.19 | c.1615A>G | Exon 12 | p.Thr539Ala | chr19:44819487 | ||||
0:Antigen Alleles | LU:-18,19, -8,14 | LU*02.19.14 |
c.611T>A c.1615A>G |
Exon 6
Exon 12 |
p.Met204Lys p.Thr539Ala |
chr19:44813447 chr19:44819487 |
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0:Antigen Alleles | LU:-20 | LU*02.-20 | c.905C>T | Exon 7 | p.Thr302Met | chr19:44814272 | ||||
0:Antigen Alleles | LU:-21 | LU*02.-21 | c.282C>G | Exon 3 | p.Asp94Glu | chr19:44812240 |
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0:Antigen Alleles | LU:-22 LURC | LU*02.-22 | c.223C>T | Exon 3 | p.Arg75Cys | chr19:44812181 | ||||
0:Antigen Alleles | LU:-23 LUIT | LU*02.-23 |
c.469G>A c.1289C>T |
Exon 4
Exon 10 |
p.Gly157Arg p.Thr430Ile |
chr19:44812513 chr19:44818835 |
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0:Antigen Alleles | LU:-24 LUGA | LU*02.-24 |
c.212G>A c.711C>T c.714C>T |
Exon 3
Exon 6 Exon 6 |
p.Arg71His |
chr19:44812170 chr19:44813547 chr19:44813550 |
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0:Antigen Alleles | LU:-25 LUAC | LU*02.-25 | c.662C>T | Exon 6 | p.Thr221Ile | chr19:44813498 |
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0:Antigen Alleles | LU:-26 LUBI | LU*02.-26 | c.1495C>T | Exon 12 | p.Arg499Trp | chr19:44819367 | ||||
0:Antigen Alleles | LU:-27, LUYA- | LU*02.-27 |
c.324G>A c.1184G>A |
Exon 3
Exon 9 |
p.Gly108Gly p.Arg395His |
chr19:44812282 chr19:44818627 |
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0:Antigen Alleles | LU:-28, LUNU- | LU*02.-28 | c.121G>A | Exon 2 | p.Val41Met | chr19:44811263 |
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0:Antigen Alleles | LU:-29, LURA- | LU*02.-29 | c.1351A>C | Exon 11 | p.Lys451Gln | chr19:44819070 |
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