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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1

Fig. 3Fig. 3

Sequencing results and bioinformatic analysis of the MAP3K1 gene variant identified in our study. a Partial sequence diagram of MAP3K1 in our case. A rare heterozygous variant in MAP3K1 (c.2282T > C) of patient I-2, II-1 and II-2, resulting in the 761th amino acid of the encoded protein from isoleucine to threonine, is shown by an arrow. b The structure domains of MAP3K1. Variants at the protein level are indicated below the domains. c Prediction of the rare damaging variant c.2282T > C (p. Ile761Thr) in MutationTaster. d Cross-species conservation of MAP3K1 around p. Ile761 is displayed

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