Fig. 3From: Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1Sequencing 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 displayedBack to article page