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Paper   IPM / Biological Sciences / 17574
School of Biological Sciences
  Title:   A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia
1.  Mouness Rahimian
2.  Masomeh Askari
3.  Najmeh Salehi
4.  Andrea Riccio
5.  Mojtaba Jaafarinia
6.  Navid Almadani
7.  Mehdi Totonchi
  Status:   Published
  Journal: Taiwanese Journal of Obstetrics and Gynecology
  Year:  2023
  Supported by:  IPM
Bioinformatics analysis followed by sanger sequencing revealed that three NOA brothers were homozygous for a rare missense variant in Cyclin Dependent Kinase Regulatory Subunit Associated Protein 2 (Centrosomin) CDK5RAP2 (NM_018249:exon26:c.A4003T:p.R1335W, rs761196443). Protein modeling demonstrated that CDK5RAP2, Arg1335Trp resided nearby the Microtubule Associated Protein RP/EB Family Member 1 (EB1/MAPRE1) interaction site. As a consequence of the R1335W mutation, the positively charged Arginine was replaced by to the hydrophobic tryptophan residue, possibly leading to local instability in the structure and perturbation in the CDK5RAP2-MAPRE1 interaction.

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