015 Colton Blood Group
The Colton blood group system consists of four antigens carried on a multipass membrane glycoprotein called aquaporin 1 (AQP1; aka Channel-forming integral protein). It consists of 269 amino acids and both amino and carboxyl termini are predicted to be intracellular.
Reference Info
Gene: AQP1
Allele: CO*01. Acceptable: CO*A or Coa if inferred by haemagglutination
Seq: NG_007475.1
(genomic), NM_198098.2 (transcript)
Entrez GeneID: 358
Number of exons: 4
Allele: CO*01. Acceptable: CO*A or Coa if inferred by haemagglutination
Seq: NG_007475.1
(genomic), NM_198098.2 (transcript)
Entrez GeneID: 358
Number of exons: 4
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 0:Antigen Alleles | CO:1 or Co(a+) | CO*01.01 or CO*A | ||||||||
| 2:Mod Alleles | CO:-1,-2,W3 or Co(a-b-) Co3+w | CO*M.01 | c.113C>T | Exon 1 | p.Pro38Leu | chr7:30912022 |
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| 4:Null Alleles | CO:-1,-2 or Co(a-b-) | CO*N.01 | del all or part exon 1 | p.0 | ||||||
| 4:Null Alleles | CO:-1,-2 or Co(a-b-) | CO*N.02 | c.308_309insT | Exon 1 | p.Ala105Glyfs*24 | chr7:30912217 |
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| 0:Antigen Alleles | CO:2 or Co(b+) | CO*02 or CO*B | c.134C>T | Exon 1 | p.Ala45Val | chr7:30912043 |
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| 4:Null Alleles | CO:-1,-2 or Co(a-b-) | CO*01N.03 | c.576C>A | Exon 3 | p.Asn192Lys | chr7:30922590 |
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| 0:Antigen Alleles | CO:-1,-2,3,-4 | CO*01.-04 | c.140A>G | Exon 1 | p.Gln47Arg | chr7:30912049 |
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| 4:Null Alleles | CO:-1,-2 or Co(a-b-) | CO*01N.04 | c.232delG | Exon 1 | p.Ala78Leufs*42 | chr7:30912141 |
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| 4:Null Alleles | CO:-1,-2 or Co(a-b-) | CO*01N.05 | c.112C>T | Exon 1 | p.Pro38Ser | chr7:30912021 |
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| 4:Null Alleles | CO:-1,-2 or Co(a-b-) | CO*01N.06 | c.601delG | Exon 3 | p.Val201* | chr7:30922615 |
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