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Table 1 Missense mutations identified in the human DAZL gene. The position of each putative mutation in the DAZL gene sequence is relative to the gene sequence as previously detailed [28].

From: Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men

Position Exon Change Occurrence
    Sex (Population) Genotype Phenotype
8169 2 Pro6 → His6 Female (ovarian failure/menopause group) Heterozygous Spontaneous early menopause at age 45. 3 children previously.
8182 2 Asn10 → Cys10 Male (infertile male group) Homozygous Azoospermia
    Female (ovarian failure/menopause group) Heterozygous Familial early menopause at age 44. 4 children previously.
8262 2 Ile37 → Ala37 Female (ovarian failure/menopause group) Heterozygous Spontaneous early menopause at age 43. 1 child previously.
9740 5 Arg115 → Gly115 Female (premature ovarian failure group) Homozygous Spontaneous premature ovarian failure at age 34. 0 children previously.