{"id":226,"system":{"id":15,"isbt_number":15,"name":"Colton","symbol":"CO","category":"Blood Group System","approved":true,"version":6,"createdAt":"2024-04-29T09:32:24.823Z","updatedAt":"2025-12-05T11:58:05.458Z","description":"<p>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. The LRG_808 (NG_007475.2) includes more than one gene; the AQP1 gene encoding for the CO blood group antigens is located in the range 63301 to 77124.</p><p></p><p>Reference allele CO*01.01 encodes: CO1, CO3, CO4</p>","allele_notes":"","assignees":["Franz Wagner"]},"gene":{"id":19,"name":"AQP1","isbt_gene":"NG_007475.2","isbt_transcript":"NM_198098.4","isbt_protein":"NP_932766.1","approved":true,"createdAt":"2024-04-29T09:32:58.223Z","updatedAt":"2024-05-06T16:34:47.592Z","version":1,"initiation_codon":null,"stop_codon":null,"entrez_id":358,"chromosome":"7","hg19_start":30951114,"hg19_end":30965130,"hg38_start":30911693,"hg38_end":30925517,"exon_count":4},"reference_allele":false,"sv_allele":false,"null_allele":true,"mod_allele":false,"partial_allele":false,"weak_allele":false,"el_allele":false,"allele_order":null,"isbt_allele":"CO*01N.04","alternate_names":null,"isbt_phenotype":"CO:-1,-2 or Co(a-b-)","isbt_snp":"c.232delG","table_row_group":null,"notes":null,"approved":true,"comment":null,"deleted":false,"obsolete":false,"provisional":false,"phenotypes":[{"id":879,"phenotype":"-","approved":true,"predicted":true,"antigen":{"id":12,"isbt_code":"CO3","isbt_number":3,"name":"Co3","display_name":"Co3","search_terms":["Co3","015003","015003"],"antigen_order":null,"approved":true,"provisional":false,"compound":false,"multigene":false,"prevalence":"High Frequency","createdAt":"2024-04-29T09:33:39.398Z","updatedAt":"2025-09-24T11:09:25.490Z","version":2},"createdAt":"2024-04-29T09:42:52.985Z","updatedAt":"2024-04-29T09:42:52.985Z","version":1},{"id":889,"phenotype":"-","approved":true,"predicted":true,"antigen":{"id":13,"isbt_code":"CO4","isbt_number":4,"name":"Co4","display_name":"Co4","search_terms":["Co4","015004","015004"],"antigen_order":null,"approved":true,"provisional":false,"compound":false,"multigene":false,"prevalence":"High Frequency","createdAt":"2024-04-29T09:33:40.311Z","updatedAt":"2025-09-24T11:09:26.153Z","version":2},"createdAt":"2024-04-29T09:42:54.120Z","updatedAt":"2024-04-29T09:42:54.120Z","version":1},{"id":871,"phenotype":"-","approved":true,"predicted":true,"antigen":{"id":11,"isbt_code":"CO2","isbt_number":2,"name":"Co(b)","display_name":"Co<sup>b</sup>","search_terms":["Co(b)","Cob","015002","015002"],"antigen_order":null,"approved":true,"provisional":false,"compound":false,"multigene":false,"prevalence":"High Frequency","createdAt":"2024-04-29T09:33:38.447Z","updatedAt":"2025-09-24T11:13:27.079Z","version":2},"createdAt":"2024-04-29T09:42:51.906Z","updatedAt":"2024-04-29T09:42:51.906Z","version":1},{"id":858,"phenotype":"-","approved":true,"predicted":true,"antigen":{"id":10,"isbt_code":"CO1","isbt_number":1,"name":"Co(a)","display_name":"Co<sup>a</sup>","search_terms":["Co(a)","Coa","015001","015001"],"antigen_order":null,"approved":true,"provisional":false,"compound":false,"multigene":false,"prevalence":"High Frequency","createdAt":"2024-04-29T09:33:37.483Z","updatedAt":"2025-09-24T11:09:24.747Z","version":2},"createdAt":"2024-04-29T09:42:50.702Z","updatedAt":"2024-04-29T09:42:50.702Z","version":1}],"variants":[{"id":689,"input":"NM_198098.4:c.232delG","note":null,"hgvs_transcript":"NM_198098.4:c.232del","exon":"1","intron":null,"rsid":null,"hgvs_intronic_chr_context":null,"hgvs_intronic_rsg_context":null,"hgvs_refseqgene":null,"hgvs_lrg":null,"hgvs_lrg_transcript":null,"hgvs_predicted_protein":"NP_932766.1:p.(Ala78LeufsTer42)","hgvs_genomic_grch37":"NC_000007.13:g.30951756del","hgvs_genomic_grch38":"NC_000007.14:g.30912141del","grch37_chr":"7","grch37_pos":30951754,"grch37_ref":"CG","grch37_alt":"C","grch38_chr":"7","grch38_pos":30912139,"grch38_ref":"CG","grch38_alt":"C","freeform_dna_change":null,"freeform_exon":null,"freeform_intron":null,"freeform_predicted_protein":null,"alternative_splicing":false,"gene_name":"AQP1","approved":true,"gnomad_all":null,"gnomad_afr":null,"gnomad_amr":null,"gnomad_asj":null,"gnomad_eas":null,"gnomad_fin":null,"gnomad_nfe":null,"gnomad_remaining":null,"gnomad_sas":null,"gnomad_mid":null,"gnomad_ami":null,"createdAt":"2024-04-29T10:00:16.729Z","updatedAt":"2025-11-05T00:51:53.451Z","version":2}],"genbanks":[{"id":669,"accession":"AJ307585","definition":"Homo sapiens AQP1 gene, null allele, exon 1","createdAt":"2024-09-29T14:38:51.351Z","updatedAt":"2024-09-29T14:38:51.351Z","version":1}],"publications":[{"id":236,"identifier":"11606828","citation":"Joshi SR, Wagner FF, Vasantha K, Panjwani SR, Flegel WA. An AQP1 null allele in an Indian woman with Co(a-b-) phenotype and high-titer anti-Co3 associated with mild HDN. Transfusion. 2001 Oct;10(41):1273-8.","type":"pmid","createdAt":"2024-09-29T12:17:18.364Z","updatedAt":"2024-09-29T12:17:18.364Z","version":1}],"createdBy":{"username":"Nick Gleadall"},"updatedBy":{"username":"Nick Gleadall"},"createdAt":"2024-04-29T09:38:01.605Z","updatedAt":"2024-04-29T09:38:01.605Z","version":1}