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Fig. 4 | BMC Medical Genetics

Fig. 4

From: The pregnancy-associated spontaneous coronary artery dissection in a young woman with a novel missense mutation in NOTCH1: a case report

Fig. 4

a Sanger sequencing confirmed that the patient was heterozygous for NOTCH1 c.4574 C > T (p.Arg1438Cys) variant. b A schematic diagram of the domain regions of neurogenic locus notch homolog protein 1 preproprotein (NP_060087.3, amino acid:1250 to 1600). The mutant residue was located very close to the NL domain. EGF_CA: Calcium-binding EGF-like domain; NL: Domain found in Notch and Lin-12; Notch: Lin-12/Notch repeat; NOD: NOTCH domain. c The protein sequence alignment showed the variant region was conserved among species. d The structure modeling of wildtype (WT) and mutant (Mut) Notch1 was built using SWISSMODEL

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BMC Medical Genetics

ISSN: 1471-2350

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