Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood serum | variant ABP1 alleles leading to the amino-acid substitutions Thr16Met, Ser332Phe and His645Asp are identified with frequencies of 25.4, 6.3 and 30.6%, respectively. Over 70% of the population carry at least one amino-acid substitution. Individuals carrying the 645Asp amino acid display lower serum diamine oxidase activity as compared with noncarriers with a significant gene-dose effect. This is due to an increase in the Michaelis-Menten constant. Individuals heterozygous for 645Asp show Vmax/Km values of 66% and homozygous 51% as compared with noncarriers. The effect of the 16Met variant allele is lower and that of the rarest allele 332Phe is negligible | Homo sapiens | - |