Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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Your research retrieved 4 results.

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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, Deletion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Yamamoto F; Hakomori S (1990) Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...] 1 Additional References Calafell F; Roubinet F; Ramírez-Soriano A (2008) Evolutionary dynamics of the human ABO gene.	GP00000019	ABO P16442	Physiology	1bp deletion (258G) resulting in frameshift N	Homo sapiens human - (species)	Homo sapiens human - (species) D	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Yamamoto F; McNeill PD; Yamamoto M ; et al. (1993) Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele. 1 Additional References Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	GP00000020	ABO P16442	Physiology	Arg176+Gly268 (group A) <-> Gly176+Arg268 (group O03 = weak AB allele rather than complete loss-of-function) two nucleotide substitutions at nt. 526 and nt. 802. The authors have not examined whether both amino acid substitutions are necessary to disrupt the enzymatic activity or if one of them is sufficient. Nevertheless they assume that the single amino acid substitution at aa. 268 (glycine+arginine) may be crucial for their nullifying effect.	Homo sapiens human - (species)	Homo sapiens human - (species)	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, Insertion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005) New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. 1 Additional References Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	GP00000021	ABO P16442	Physiology	1bp insertion resulting in premature stop codon N	Homo sapiens human - (species)	Homo sapiens human - (species) D	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, SNP N	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005) New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. 1 Additional References Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	GP00000022	ABO P16442	Physiology	1bp change resulting in stop codon N	Homo sapiens human - (species)	Homo sapiens human - (species)	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator