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Fig. 1 | Journal of Ovarian Research

Fig. 1

From: NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree

Fig. 1

NOTCH2 variant in POI patients. (A) Two POI patients in a Chinese pedigree. Each of the affected family members (black circle) carried a heterozygous NOTCH2 mutation. The red arrows point to the mutation site. (B) Domains and mutation site in the NOTCH2 protein. The full-length protein contains 2471 amino acids (aa). EGF-like repeats, aa 26–1412 (blue box); ANK domain, aa 1827–2038 (light blue box). The D1853H variant located in the ANK domain, respectively. (C) Alignment of NOTCH2 proteins from different species. The D1853 site of human NOTCH2 is highly conserved in the aligned sequences

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