031 FORS Blood Group
The FORS blood group system consists of one antigen (rare) and the carbohydrate structure is present in the RBC membrane in the globo-series biosynthetic pathway. The terminal carbohydrate moiety is an extension of the P antigen (globoside, Gb4). The glycosyltransferase that synthesizes the FORS1 antigen consists of 347 amino acids and is considered non-functional in most individuals. In antigen positive individuals the glycosyltransferase is activated due to a point mutation in exon 7.
Reference Info
Gene: GBGT1
Allele: GBGT1*01N.01
Seq: NG_033868.1
(genomic), NM_021996.5 (transcript)
Entrez GeneID: 26301
Number of exons: 7
Allele: GBGT1*01N.01
Seq: NG_033868.1
(genomic), NM_021996.5 (transcript)
Entrez GeneID: 26301
Number of exons: 7
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 0:Antigen Alleles | FORS:1 (FORS+) | GBGT1*01.01 | c.887G>A | Exon 7 | p.Arg296Gln | chr9:133153734 |
|
|||
| 0:Antigen Alleles | FORS:1 (FORS+) | GBGT1*01.02 |
c.58C>T c.887G>A |
Exon 2
Exon 7 |
p.Leu20Phe p.Arg296Gln |
chr9:133162355 chr9:133153734 |
|
|||
| 4:Null Alleles | FORS:-1 (FORS-) | GBGT1*01N.01 | ||||||||
| 4:Null Alleles | FORS:-1 (FORS-) | GBGT1*01N.02 | c.58C>T | Exon 2 | p.Leu20Phe | chr9:133162355 |
|
|||
| 4:Null Alleles | FORS:-1 (FORS-) | GBGT1*02N | c.363C>A | Exon 7 | p.Tyr121Ter | chr9:133154258 |
|