Fig. 3 | Genetics in Medicine

Fig. 3

From: Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Fig. 3

HumanSOX5is under tight conservation constraint. (a) Distribution of synonymous and missense variants in SOX5 in gnomAD individuals.CC, coiled coil. (b) Percentages of residues carrying at least one synonymous or missense variant in the functional and other domains of SOX5 in gnomAD individuals. T-tests were performed to calculate the statistical significance of differences between protein domains. P values are indicated. (c) Alignment of all human SOX protein HMG ___domain sequences, with indication of residues altered in Lamb–Shaffer syndrome (LAMSHF) patients (red) and altered only in gnomAD individuals (purple). Asterisks, fully conserved residues. Dots, semiconserved residues. Colored triangles, residues important for DNA binding and bending. Brackets, H1, H2, and H3 α-helices. Continued lines linked with dotted lines, key amino acids in nuclear localization signal sequences (NLS) and nuclear export signal sequence (NES). (d) Alignment of human SOXD protein sequences outside the HMG ___domain that encompass residues altered in LAMSHF patients.

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