Evaluation of The 1499T>C Variant in The AKAP3 Gene of Infertile Men with Multiple Morphological Abnormalities of The Sperm Flagella Phenotype: A Case-Control Study.

Elham Poursafari TalemiSeyedeh-Hanieh HosseiniHamid GourabiMarjan SabbaghianAnahita Mohseni Meybodi

Published in: International journal of fertility & sterility (2024)

In the homozygous form, this mutation changed Isoleucine to Threonine. This alternation occurred inside the AKAP4 binding domain of the AKAP3 protein. The observed variants caused no significant deviation in the secondary structure of AKAP3 protein and probably its function in spermatozoa flagella. So, these variants cannot be considered as the causes of MMAF phenotype in the studied patients.

Keyphrases

copy number
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
binding protein
amino acid
adipose tissue
polycystic ovary syndrome
dna binding
middle aged
protein kinase