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. 2023 Oct 13;41(1):109–120. doi: 10.1007/s10815-023-02966-x

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Fig. 2 — Identification of NPHP4 c.1490C > G homozygous pathogenic variant that co-segregated in both patients. A The identified NPHP4 mutation resulted in the c.1490C > G transversion in the coding sequence. This mutation (p.P497R) resulted in the replacement of proline “P” with arginine “R” at position 497. This (p.P497R) mutation is located in the proline rich domain of NPHP4 protein. B Sanger sequencing confirmed two infertile siblings (IV:3 and IV:4) contained a homozygous missense mutation (p.P497R) in NPHP4. Both parents (III:1 and III:2) and patients brother IV:5 carried heterozygous NPHP4 mutation. Brother (IV:2) is wild type to the identified mutation. Red box showing the position of mutated nucleotides. C Multiple sequence alignment of the NPHP4 protein across different species, yellow color arrow head indicates the position of evolutionary conserved mutant residue p.P497R in the patients (IV:3 and IV:4). NAT, N-Acyltransferase; MSP, Major sperm protein