Blood Group Database

027 I Blood Group

The I blood group system consists of one antigen, carried branched carbohydrate chains in the RBC membrane. The glycosyltransferase that synthesizes I antigen on red cells consists of 402 amino acids and is encoded by the transcript containing exon 1C. The I– phenotype in adults is associated with cataracts.

Antigens

[1] I

Reference Info

Gene: GCNT2
Allele: GCNT2*01. Acceptable: I, if inferred by haemagglutination
Seq: NG_007469.2

(genomic), NM_145655.3

(transcript)
Entrez GeneID: 2651

Number of exons: 3

GCNT2

Loading Data ...

allele_category	Phenotype	Allele Name	Nucleotide Changes	Exon	Amino Acid Changes	hg38	rsNum	Reference
0:Antigen Alleles	I	GCNT201*
4:Null Alleles	I- (i adult)	GCNT201N.01*	c.1049G>A	Exon 3	p.Gly350Glu	chr6:10626447	rs56141211	11739194
4:Null Alleles	I- (i adult)	GCNT201N.02*	c.1154G>A	Exon 3	p.Arg385His	chr6:10626552	rs55940927
4:Null Alleles	I- (i adult)	GCNT201N.05*	c.984G>A	Exon 2	p.Trp328*	chr6:10621409	rs1177742207
4:Null Alleles	I- (i adult)	GCNT201N.06*	del exon 1B, 1C, 2, 3		p.0
4:Null Alleles	I- (i adult)	GCNT201N.07*	c.651delA	Exon 1	p.Val219Cysfs*26	chr6:10586640	rs1480258044
4:Null Alleles	I- (i adult)	GCNT201N.08*	c.935G>A	Exon 2	p.Gly312Asp	chr6:10621360	rs777441702
4:Null Alleles	I- (i adult) G	GCNT201N.09*	c.1163_1166delATCA	Exon 3	p.Asn390Argfs*20	chr6:10626561
1:Weak Alleles	I+W	GCNT201W.01*	c.243T>A	Exon 1	p.Asn81Lys	chr6:10586232	rs201291494
1:Weak Alleles	I+W	GCNT201W.02*	c.505G>A	Exon 1	p.Ala169Thr	chr6:10586494	rs56106312
1:Weak Alleles	I+W	GCNT201W.03*	c.683G>A	Exon 1	p.Arg228Gln	chr6:10586672	rs755228157
0:Antigen Alleles	I	GCNT202*	c.816G>C	Exon 1	p.Glu272Asp	chr6:10586805	rs539351
4:Null Alleles	I- (i adult)	GCNT202N.01*	c.816G>C c.1006G>A	Exon 1 Exon 2	p.Glu272Asp p.Gly336Arg	chr6:10586805 chr6:10621431	rs539351 rs774740944